Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701989del , CM000669.2:g.107701989del | GRCh38 |
| NC_000007.13:g.107342434del , CM000669.1:g.107342434del | GRCh37 |
| NC_000007.12:g.107129670del | NCBI36 |
| NG_008489.1:g.46355del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1966del MANE Select | ENSP00000494017.1:p.His656IlefsTer18 | |
| ENST00000644846.1:c.677del | ||
| ENST00000265715.7:c.1966del | ENSP00000265715.3:p.His656IlefsTer18 | |
| ENST00000492030.2:n.253del | ||
| NM_000441.1:c.1966del | NP_000432.1:p.His656IlefsTer18 | |
| XM_005250425.1:c.1966del | XP_005250482.1:p.His656IlefsTer18 | |
| XM_005250425.2:c.1966del | XP_005250482.1:p.His656IlefsTer18 | |
| XM_017012318.1:c.1888del | XP_016867807.1:p.His630IlefsTer18 | |
| NM_000441.2:c.1966del MANE Select | NP_000432.1:p.His656IlefsTer18 |