High-confidence alternative splicing events at the PALB2 locus (PTC-NMD events)
| Designation* | Biotype† | RNA‡ | Protein | Coding potential | Blood | Breast | Ovary |
| ∆(E1q169) | Donor shift | r.-121_48del | Non-coding | LoF | Yes | Yes | Yes |
| ∆(E1q17)§¶ | Donor shift | r.32_48del | p.Cys11Phefs*25 | LoF | Yes | Yes | Yes |
| ▼(E1q337) | Donor shift | r.48_49ins48+1_48+337 | p.Leu17Valfs*19 | LoF | Yes | – | – |
| IVS1-463▼(134)§¶ | Cassette | r.48_49ins49-463_49–330 | p.Leu17Valfs*11 | LoF | Yes | Yes | – |
| ▼(E2p26) | Acceptor shift | r.48_49ins49-26_49–1 | p.Leu17Tyrfs*9 | LoF | Yes | – | Yes |
| ▼(I2) | Intron retention | r.108_109ins108+1_109–1 | p.R37_S1186delins11 | LoF | Yes | – | – |
| ▼(E3p36)∗∗ | Acceptor shift | r.108_109ins109-36_109–1 | p.Arg37_Ser1186deldelins11 | LoF | Yes | Yes | Yes |
| ▼(E4p25) | Acceptor shift | r.211_212ins212-25_212–1 | p.Glu71Valfs*10 | LoF | Yes | – | – |
| Δ(E4_E5)§¶ | Multicassette | r.212_2514del | p.Glu71Aspfs*1 | LoF | Yes | Yes | – |
| ∆(E5p139) | Acceptor shift | r.1685_1823del | p.Gly562Valfs*19 | LoF | Yes | Yes | – |
| ∆(E5) | Cassette | r.1685_2514del | p.Gly562Aspfs*1 | LoF | Yes | – | – |
| ▼(E6p28) | Acceptor shift | r.2514_2515ins2515-28_2515–1 | p.Glu840Asnfs*9 | LoF | Yes | Yes | Yes |
| ▼(E7p20) | Acceptor shift | r.2586_2587ins2587-20_2587–1 | p.Pro864Cysfs*13 | LoF | Yes | – | Yes |
| ∆(E7p2) | Acceptor shift | r.2587_2588del | p.Asn863Serfs*20 | LoF | Yes | Yes | – |
| ∆(E7p10) | Acceptor shift | r.2587_2596del | p.Asn863Valfs*4 | LoF | Yes | Yes | Yes |
| ∆(E7p25) | Acceptor shift | r.2587_2611del | p.Asn863Metfs*1 | LoF | Yes | Yes | Yes |
| ▼(E8p30)†† | Acceptor shift | r.2748_2749ins2749-30_2749–1 | p.Val917_Ser1186delins9 | LoF | Yes | – | Yes |
| ∆(E8) | Cassette | r.2749_2834del | p.Val917Glyfs*6 | LoF | Yes | Yes | Yes |
| ∆(E8_E9) | Multicassette | r.2749_2996del | p.Val917Argfs*10 | LoF | Yes | Yes | – |
| ∆(E10p2) | Acceptor shift | r.2997_2998del | p.Gly1000Glnfs*9 | LoF | Yes | – | – |
| ∆(E10q31) | Donor shift | r.3083_3113del | p.Thr1029Ilefs*1 | LoF | Yes | Yes | – |
| ▼(E11p23) | Acceptor shift | r.113_3114ins3111-23_3114–1 | p.Trp1038Cysfs*7 | LoF | Yes | Yes | Yes |
| ∆(E11p2) | Acceptor shift | r.3114_3115del | p.Trp1038Ter | LoF | Yes | Yes | Yes |
| ∆(E11)§ | Cassette | r.3114_3201del | p.Asn1039Glyfs*5 | LoF | Yes | Yes | Yes |
| ∆(E11)+▼(E12p446) | Mixed | r.3114_3201del+r0.3201_3202ins3202-446_3202–1 | p.Trp1038Cysfs*3 | LoF | Yes | – | – |
| ∆(E11)+▼(E12p65) | Mixed | r.3114_3201del+r0.3201_3202ins3202-65_3202–1 | p.Trp1038Ter | LoF | Yes | – | – |
| ▼(E12p65) | Acceptor shift | r.3201_3202ins3202-65_3202–1 | p.Gly1068Ilefs*28 | LoF | Yes | Yes | Yes |
| ∆(E12p136) | Acceptor shift | r.3202_3337del | p.Leu1069Argfs*9 | LoF | Yes | – | – |
| ∆(E12)§¶ | Cassette | r.3202_3350del | (p.Gly1068_Ser1186delins4) | LoF | Yes | Yes | Yes |
*See ’Methods' section.
†Biotype according to ENCODE.25
‡RNA described according to the Human Genome Variation Society rules at http://varnomen.hgvs.org/, using Ensembl transcript ENST00000261584.8 as a reference.
§described previously in the literature.12
¶ described in comprenesive gene annotation from GENCODE realese 26 retrieved through Ensembl at http://www.ensembl.org/
**The predicted 36 nucleotides insertion includes an in-frame PTC (p.Arg37_Ser1186delinsKTYFWGCFCLL).
††The predicted 30 nucleotides insertion includes an in-frame PTC (p.Val917_Ser1186delinsHNFWLLCFI).