Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529092del , CM000665.2:g.129529092del | GRCh38 |
| NC_000003.11:g.129247935del , CM000665.1:g.129247935del | GRCh37 |
| NC_000003.10:g.130730625del | NCBI36 |
| NG_009115.1:g.5454del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.359del MANE Select | NP_000530.1:p.Gly120AlafsTer24 |
| ENST00000296271.4:c.359del MANE Select | ENSP00000296271.3:p.Gly120AlafsTer24 |
| ENST00000296271.3:c.359del | ENSP00000296271.3:p.Gly120AlafsTer24 |