Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812057_192812060del , CM000663.2:g.192812057_192812060del | GRCh38 |
| NC_000001.10:g.192781187_192781190del , CM000663.1:g.192781187_192781190del | GRCh37 |
| NC_000001.9:g.191047810_191047813del | NCBI36 |
| NG_012800.1:g.8019_8022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*461_*464del MANE Select | ENSP00000235382.5:n.*461_*464del | |
| ENST00000235382.6:c.*461_*464del | ENSP00000235382.5:n.*461_*464del | |
| NM_002923.3:c.*461_*464del | NP_002914.1:n.*461_*464del | |
| NM_002923.4:c.*461_*464del MANE Select | NP_002914.1:n.*461_*464del |