Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431351del , CM000663.2:g.68431351del | GRCh38 |
| NC_000001.10:g.68897034del , CM000663.1:g.68897034del | GRCh37 |
| NC_000001.9:g.68669622del | NCBI36 |
| NG_008472.1:g.23610del | |
| NG_008472.2:g.23610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1270del MANE Select | ENSP00000262340.5:p.Gln424ArgfsTer16 | |
| ENST00000262340.5:c.1270del | ENSP00000262340.5:p.Gln424ArgfsTer16 | |
| NM_000329.2:c.1270del | NP_000320.1:p.Gln424ArgfsTer16 | |
| XM_017002027.1:c.994del | XP_016857516.1:p.Gln332ArgfsTer16 | |
| NM_000329.3:c.1270del MANE Select | NP_000320.1:p.Gln424ArgfsTer16 |