Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611578del , CM000672.2:g.97611578del | GRCh38 |
| NC_000010.10:g.99371335del , CM000672.1:g.99371335del | GRCh37 |
| NC_000010.9:g.99361325del | NCBI36 |
| NG_027922.1:g.32234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.903del MANE Select | ENSP00000359680.4:p.Cys302AlafsTer8 | |
| ENST00000370646.8:c.903del | ENSP00000359680.4:p.Cys302AlafsTer8 | |
| ENST00000370647.8:c.414del | ENSP00000359681.4:p.Cys139AlafsTer8 | |
| ENST00000370649.3:c.345+9588del | ENSP00000359683.3:n.345+9588del | |
| NM_001134670.1:c.414del | NP_001128142.1:p.Cys139AlafsTer8 | |
| NM_138413.3:c.903del | NP_612422.2:p.Cys302AlafsTer8 | |
| NM_138413.4:c.903del MANE Select | NP_612422.2:p.Cys302AlafsTer8 | |
| NM_001134670.2:c.414del | NP_001128142.1:p.Cys139AlafsTer8 |