Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173510_173521del , CM000678.2:g.173510_173521del | GRCh38 |
| NC_000016.9:g.223509_223520del , CM000678.1:g.223509_223520del | GRCh37 |
| NC_000016.8:g.163509_163520del | NCBI36 |
| NG_000006.1:g.34373_34384del | |
| NG_059186.1:g.1860_1871del | |
| NG_059271.1:g.5664_5675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.339_350del MANE Select | ENSP00000251595.6:p.His113_Glu117delinsGln | |
| ENST00000251595.10:c.339_350del | ENSP00000251595.6:p.His113_Glu117delinsGln | |
| ENST00000397806.1:c.243_254del | ENSP00000380908.1:p.His81_Glu85delinsGln | |
| ENST00000482565.1:n.475_486del | ||
| NM_000517.4:c.339_350del | NP_000508.1:p.His113_Glu117delinsGln | |
| NM_000517.6:c.339_350del MANE Select | NP_000508.1:p.His113_Glu117delinsGln |