Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268876del , CM000668.2:g.31268876del | GRCh38 |
| NC_000006.11:g.31236653del , CM000668.1:g.31236653del | GRCh37 |
| NC_000006.10:g.31344632del | NCBI36 |
| NG_029422.2:g.8257del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*294del MANE Select | ENSP00000365402.5:n.*294del | |
| ENST00000376228.9:c.*294del | ENSP00000365402.5:n.*294del | |
| ENST00000376237.8:c.*982del | ENSP00000365412.4:n.*982del | |
| ENST00000383329.7:c.*294del | ENSP00000372819.3:n.*294del | |
| ENST00000466892.5:n.628del | ||
| ENST00000470363.5:n.1153del | ||
| ENST00000487245.5:n.1754del | ||
| NM_002117.5:c.*294del | NP_002108.4:n.*294del | |
| NM_002117.6:c.*294del MANE Select | NP_002108.4:n.*294del |