Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042499_56042500del , CM000674.2:g.56042499_56042500del | GRCh38 |
| NC_000012.11:g.56436283_56436284del , CM000674.1:g.56436283_56436284del | GRCh37 |
| NC_000012.10:g.54722550_54722551del | NCBI36 |
| NG_023201.1:g.5598_5599del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029.5:c.78_79del MANE Select | NP_001020.2:p.Ala27ProfsTer10 |
| ENST00000646449.2:c.78_79del MANE Select | ENSP00000496643.1:p.Ala27ProfsTer10 |
| NM_001029.3:c.78_79del | NP_001020.2:p.Ala27ProfsTer10 |
| ENST00000356464.10:c.78_79del | ENSP00000348849.5:p.Ala27ProfsTer10 |
| ENST00000356464.9:c.78_79del | ENSP00000348849.5:p.Ala27ProfsTer10 |
| ENST00000548590.1:n.105_106del | |
| ENST00000552361.1:c.78_79del | ENSP00000450339.1:p.Ala27ProfsTer10 |