Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891534_72891537del , CM000664.2:g.72891534_72891537del | GRCh38 |
| NC_000002.11:g.73118663_73118666del , CM000664.1:g.73118663_73118666del | GRCh37 |
| NC_000002.10:g.72972171_72972174del | NCBI36 |
| NG_008234.1:g.9152_9155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.783_786del MANE Select | ENSP00000234454.5:p.Ter262ProextTer7 | |
| ENST00000234454.5:c.783_786del | ENSP00000234454.5:p.Ter262ProextTer7 | |
| ENST00000498749.1:n.728_731del | ||
| NM_003124.4:c.783_786del | NP_003115.1:p.Ter262ProextTer7 | |
| NM_003124.5:c.783_786del MANE Select | NP_003115.1:p.Ter262ProextTer7 |