Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506746del , CM000672.2:g.122506746del | GRCh38 |
| NC_000010.10:g.124266262del , CM000672.1:g.124266262del | GRCh37 |
| NC_000010.9:g.124256252del | NCBI36 |
| NG_011554.1:g.50222del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.833del MANE Select | ENSP00000357980.3:p.Phe278SerfsTer20 | |
| ENST00000648167.1:c.515del | ENSP00000498033.1:p.Phe172SerfsTer20 | |
| ENST00000368984.7:c.833del | ENSP00000357980.3:p.Phe278SerfsTer20 | |
| ENST00000420892.1:c.56del | ENSP00000412676.1:p.Phe19SerfsTer20 | |
| NM_002775.4:c.833del | NP_002766.1:p.Phe278SerfsTer20 | |
| NM_002775.5:c.833del MANE Select | NP_002766.1:p.Phe278SerfsTer20 |