Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101228802_101228804del , CM000665.2:g.101228802_101228804del | GRCh38 |
| NC_000003.11:g.100947646_100947648del , CM000665.1:g.100947646_100947648del | GRCh37 |
| NC_000003.10:g.102430336_102430338del | NCBI36 |
| NG_028284.1:g.96775_96777del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.3709_3711del MANE Select | ENSP00000193391.6:p.Gln1237del | |
| ENST00000193391.7:c.3709_3711del | ENSP00000193391.6:p.Gln1237del | |
| NM_016247.3:c.3709_3711del | NP_057331.2:p.Gln1237del | |
| XM_011512871.1:c.3415_3417del | XP_011511173.1:p.Gln1139del | |
| XM_011512872.1:c.3298_3300del | XP_011511174.1:p.Gln1100del | |
| NM_016247.4:c.3709_3711del MANE Select | NP_057331.2:p.Gln1237del |