Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269349del , CM000668.2:g.31269349del | GRCh38 |
| NC_000006.11:g.31237126del , CM000668.1:g.31237126del | GRCh37 |
| NC_000006.10:g.31345105del | NCBI36 |
| NG_029422.2:g.7783del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1085del MANE Select | ENSP00000365402.5:p.Ile362ThrfsTer? | |
| ENST00000376228.9:c.1085del | ENSP00000365402.5:p.Ile362ThrfsTer? | |
| ENST00000376237.8:c.*672del | ENSP00000365412.4:n.*672del | |
| ENST00000383329.7:c.1103del | ENSP00000372819.3:p.Ile368ThrfsTer? | |
| ENST00000466892.5:n.318del | ||
| ENST00000470363.5:n.843del | ||
| ENST00000487245.5:n.1444del | ||
| NM_002117.5:c.1085del | NP_002108.4:p.Ile362ThrfsTer? | |
| NM_002117.6:c.1085del MANE Select | NP_002108.4:p.Ile362ThrfsTer? |