Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124482586del , CM000671.2:g.124482586del | GRCh38 |
| NC_000009.11:g.127244865del , CM000671.1:g.127244865del | GRCh37 |
| NC_000009.10:g.126284686del | NCBI36 |
| NG_008176.1:g.29836del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004959.5:c.*173del MANE Select | NP_004950.2:n.*173del |
| ENST00000373588.9:c.*173del MANE Select | ENSP00000362690.4:n.*173del |
| NM_004959.4:c.*173del | NP_004950.2:n.*173del |
| ENST00000373588.8:c.*173del | ENSP00000362690.4:n.*173del |
| ENST00000620110.4:c.*173del | ENSP00000483309.1:n.*173del |
| XM_005251871.2:c.*173del | XP_005251928.1:n.*173del |
| XM_005251872.3:c.*173del | XP_005251929.1:n.*173del |
| XM_011518455.1:c.*173del | XP_011516757.1:n.*173del |