Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813783del , CM000671.2:g.129813783del | GRCh38 |
| NC_000009.11:g.132576062del , CM000671.1:g.132576062del | GRCh37 |
| NC_000009.10:g.131615883del | NCBI36 |
| NG_008049.1:g.15382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*191del MANE Select | ENSP00000345719.4:n.*191del | |
| ENST00000651202.1:c.*458del | ENSP00000498222.1:n.*458del | |
| ENST00000351698.4:c.*191del | ENSP00000345719.4:n.*191del | |
| ENST00000474192.1:n.774del | ||
| NM_000113.2:c.*191del | NP_000104.1:n.*191del | |
| XR_929731.3:n.1385del | ||
| NM_000113.3:c.*191del MANE Select | NP_000104.1:n.*191del |