Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586171_182586172del , CM000663.2:g.182586171_182586172del | GRCh38 |
| NC_000001.10:g.182555306_182555307del , CM000663.1:g.182555306_182555307del | GRCh37 |
| NC_000001.9:g.180821929_180821930del | NCBI36 |
| NG_009024.2:g.5802_5803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.635_636del MANE Select | ENSP00000356530.3:p.Ser212IlefsTer2 | |
| ENST00000539397.1:c.635_636del | ENSP00000440844.1:p.Ser212IlefsTer2 | |
| NM_021133.3:c.635_636del | NP_066956.1:p.Ser212IlefsTer2 | |
| XM_005245411.2:c.635_636del | XP_005245468.1:p.Ser212IlefsTer2 | |
| XR_001737359.1:n.918_919del | ||
| XR_001737360.1:n.918_919del | ||
| NM_021133.4:c.635_636del MANE Select | NP_066956.1:p.Ser212IlefsTer2 |