Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531026del , CM000665.2:g.129531026del | GRCh38 |
| NC_000003.11:g.129249869del , CM000665.1:g.129249869del | GRCh37 |
| NC_000003.10:g.130732559del | NCBI36 |
| NG_009115.1:g.7388del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.512del MANE Select | ENSP00000296271.3:p.Pro171HisfsTer? | |
| ENST00000296271.3:c.512del | ENSP00000296271.3:p.Pro171HisfsTer? | |
| NM_000539.3:c.512del MANE Select | NP_000530.1:p.Pro171HisfsTer? |