Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129533617del , CM000665.2:g.129533617del | GRCh38 |
| NC_000003.11:g.129252460del , CM000665.1:g.129252460del | GRCh37 |
| NC_000003.10:g.130735150del | NCBI36 |
| NG_009115.1:g.9979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.946del MANE Select | ENSP00000296271.3:p.Cys316AlafsTer? | |
| ENST00000296271.3:c.946del | ENSP00000296271.3:p.Cys316AlafsTer? | |
| NM_000539.3:c.946del MANE Select | NP_000530.1:p.Cys316AlafsTer? |