Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269148del , CM000668.2:g.31269148del | GRCh38 |
| NC_000006.11:g.31236925del , CM000668.1:g.31236925del | GRCh37 |
| NC_000006.10:g.31344904del | NCBI36 |
| NG_029422.2:g.7984del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*21del MANE Select | ENSP00000365402.5:n.*21del | |
| ENST00000376228.9:c.*21del | ENSP00000365402.5:n.*21del | |
| ENST00000376237.8:c.*709del | ENSP00000365412.4:n.*709del | |
| ENST00000383329.7:c.*21del | ENSP00000372819.3:n.*21del | |
| ENST00000466892.5:n.355del | ||
| ENST00000470363.5:n.880del | ||
| ENST00000487245.5:n.1481del | ||
| NM_002117.5:c.*21del | NP_002108.4:n.*21del | |
| NM_002117.6:c.*21del MANE Select | NP_002108.4:n.*21del |