Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571753del , CM000663.2:g.154571753del | GRCh38 |
| NC_000001.10:g.154544229del , CM000663.1:g.154544229del | GRCh37 |
| NC_000001.9:g.152810853del | NCBI36 |
| NG_008027.1:g.8973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.930del MANE Select | ENSP00000357461.3:p.Ser311ProfsTer25 | |
| ENST00000636034.1:c.930del | ENSP00000489703.1:p.Ser311ProfsTer25 | |
| ENST00000637900.1:c.936del | ENSP00000490474.1:p.Ser313ProfsTer25 | |
| ENST00000368476.3:c.930del | ENSP00000357461.3:p.Ser311ProfsTer25 | |
| NM_000748.2:c.930del | NP_000739.1:p.Ser311ProfsTer25 | |
| XM_017000180.2:c.420del | XP_016855669.1:p.Ser141ProfsTer25 | |
| XR_001736952.2:n.1182del | ||
| NM_000748.3:c.930del MANE Select | NP_000739.1:p.Ser311ProfsTer25 |