Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122507143del , CM000672.2:g.122507143del | GRCh38 |
| NC_000010.10:g.124266659del , CM000672.1:g.124266659del | GRCh37 |
| NC_000010.9:g.124256649del | NCBI36 |
| NG_011554.1:g.50619del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.973-227del MANE Select | ENSP00000357980.3:n.973-227del | |
| ENST00000648167.1:c.655-227del | ENSP00000498033.1:n.655-227del | |
| ENST00000368984.7:c.973-227del | ENSP00000357980.3:n.973-227del | |
| ENST00000420892.1:c.196-227del | ENSP00000412676.1:n.196-227del | |
| NM_002775.4:c.973-227del | NP_002766.1:n.973-227del | |
| NM_002775.5:c.973-227del MANE Select | NP_002766.1:n.973-227del |