Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270025del , CM000668.2:g.31270025del | GRCh38 |
| NC_000006.11:g.31237802del , CM000668.1:g.31237802del | GRCh37 |
| NC_000006.10:g.31345781del | NCBI36 |
| NG_029422.2:g.7108del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.957del MANE Select | ENSP00000365402.5:p.Val320SerfsTer2 | |
| ENST00000376228.9:c.957del | ENSP00000365402.5:p.Val320SerfsTer2 | |
| ENST00000376237.8:c.*544del | ENSP00000365412.4:n.*544del | |
| ENST00000383329.7:c.957del | ENSP00000372819.3:p.Val320SerfsTer2 | |
| ENST00000470363.5:n.275del | ||
| ENST00000487245.5:n.1316del | ||
| NM_002117.5:c.957del | NP_002108.4:p.Val320SerfsTer2 | |
| NM_002117.6:c.957del MANE Select | NP_002108.4:p.Val320SerfsTer2 |