Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269351del , CM000668.2:g.31269351del | GRCh38 |
| NC_000006.11:g.31237128del , CM000668.1:g.31237128del | GRCh37 |
| NC_000006.10:g.31345107del | NCBI36 |
| NG_029422.2:g.7781del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1083del MANE Select | ENSP00000365402.5:p.Ile362SerfsTer? | |
| ENST00000376228.9:c.1083del | ENSP00000365402.5:p.Ile362SerfsTer? | |
| ENST00000376237.8:c.*670del | ENSP00000365412.4:n.*670del | |
| ENST00000383329.7:c.1101del | ENSP00000372819.3:p.Ile368SerfsTer? | |
| ENST00000466892.5:n.316del | ||
| ENST00000470363.5:n.841del | ||
| ENST00000487245.5:n.1442del | ||
| NM_002117.5:c.1083del | NP_002108.4:p.Ile362SerfsTer? | |
| NM_002117.6:c.1083del MANE Select | NP_002108.4:p.Ile362SerfsTer? |