Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532615_129532616del , CM000665.2:g.129532615_129532616del | GRCh38 |
| NC_000003.11:g.129251458_129251459del , CM000665.1:g.129251458_129251459del | GRCh37 |
| NC_000003.10:g.130734148_130734149del | NCBI36 |
| NG_009115.1:g.8977_8978del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.779_780del MANE Select | ENSP00000296271.3:p.Ala260ValfsTer? | |
| ENST00000296271.3:c.779_780del | ENSP00000296271.3:p.Ala260ValfsTer? | |
| NM_000539.3:c.779_780del MANE Select | NP_000530.1:p.Ala260ValfsTer? |