Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59019557del , CM000682.2:g.59019557del | GRCh38 |
| NC_000020.10:g.57594612del , CM000682.1:g.57594612del | GRCh37 |
| NC_000020.9:g.57028007del | NCBI36 |
| NG_023424.2:g.5304del , LRG_581:g.5304del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.35del MANE Select | NP_110400.1:p.Cys12LeufsTer12 |
| ENST00000217133.2:c.35del MANE Select | ENSP00000217133.1:p.Cys12LeufsTer12 |
| NM_030773.3:c.35del , LRG_581t1:c.35del | NP_110400.1:p.Cys12LeufsTer12 |
| ENST00000217133.1:c.35del | ENSP00000217133.1:p.Cys12LeufsTer12 |
| XM_017028085.1:c.-10+3012del | XP_016883574.1:n.-10+3012del |