Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813798del , CM000671.2:g.129813798del | GRCh38 |
| NC_000009.11:g.132576077del , CM000671.1:g.132576077del | GRCh37 |
| NC_000009.10:g.131615898del | NCBI36 |
| NG_008049.1:g.15366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*175del MANE Select | ENSP00000345719.4:n.*175del | |
| ENST00000651202.1:c.*442del | ENSP00000498222.1:n.*442del | |
| ENST00000351698.4:c.*175del | ENSP00000345719.4:n.*175del | |
| ENST00000474192.1:n.758del | ||
| NM_000113.2:c.*175del | NP_000104.1:n.*175del | |
| XR_929731.3:n.1369del | ||
| NM_000113.3:c.*175del MANE Select | NP_000104.1:n.*175del |