Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212896145del , CM000663.2:g.212896145del | GRCh38 |
| NC_000001.10:g.213069487del , CM000663.1:g.213069487del | GRCh37 |
| NC_000001.9:g.211136110del | NCBI36 |
| NG_028131.1:g.42891del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.*855del MANE Select | NP_054772.1:n.*855del |
| ENST00000366971.9:c.*855del MANE Select | ENSP00000355938.4:n.*855del |
| NM_014053.3:c.*855del | NP_054772.1:n.*855del |
| ENST00000366971.8:c.*855del | ENSP00000355938.4:n.*855del |
| XM_011509446.3:c.*855del | XP_011507748.1:n.*855del |
| XR_247024.3:n.2440del |