Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055909_91055911del , CM000674.2:g.91055909_91055911del | GRCh38 |
| NC_000012.11:g.91449686_91449688del , CM000674.1:g.91449686_91449688del | GRCh37 |
| NC_000012.10:g.89973817_89973819del | NCBI36 |
| NG_021223.1:g.7448_7450del , LRG_538:g.7448_7450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.375_377del MANE Select | ENSP00000266719.3:p.Phe125del | |
| ENST00000266719.3:c.375_377del | ENSP00000266719.3:p.Phe125del | |
| NM_007035.3:c.375_377del , LRG_538t1:c.375_377del | NP_008966.1:p.Phe125del | |
| XM_011537781.1:c.375_377del | XP_011536083.1:p.Phe125del | |
| NM_007035.4:c.375_377del MANE Select | NP_008966.1:p.Phe125del |