Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927732del , CM000663.2:g.149927732del | GRCh38 |
| NC_000001.10:g.149899624del , CM000663.1:g.149899624del | GRCh37 |
| NC_000001.9:g.148166248del | NCBI36 |
| NG_032777.1:g.5522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.29del MANE Select | ENSP00000271628.8:p.Asn10IlefsTer30 | |
| ENST00000271628.8:c.29del | ENSP00000271628.8:p.Asn10IlefsTer30 | |
| NM_005850.4:c.29del | NP_005841.1:p.Asn10IlefsTer30 | |
| NM_005850.5:c.29del MANE Select | NP_005841.1:p.Asn10IlefsTer30 |