Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325220_47325221del , CM000672.2:g.47325220_47325221del | GRCh38 |
| NC_000010.10:g.48414141_48414142del , CM000672.1:g.48414141_48414142del | GRCh37 |
| NC_000010.9:g.48034147_48034148del | NCBI36 |
| NG_033916.1:g.7731_7732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.726_727del MANE Select | ENSP00000463051.1:p.Ile242MetfsTer18 | |
| ENST00000581492.2:c.726_727del | ENSP00000463051.1:p.Ile242MetfsTer18 | |
| NM_016204.2:c.726_727del | NP_057288.1:p.Ile242MetfsTer18 | |
| XM_006717761.2:c.726_727del | XP_006717824.1:p.Ile242MetfsTer18 | |
| NM_016204.3:c.726_727del | NP_057288.1:p.Ile242MetfsTer18 | |
| NM_016204.4:c.726_727del MANE Select | NP_057288.1:p.Ile242MetfsTer18 |