Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461761_122461762delinsTG , CM000672.2:g.122461761_122461762delinsTG | GRCh38 |
| NC_000010.10:g.124221277_124221278delinsTG , CM000672.1:g.124221277_124221278delinsTG | GRCh37 |
| NC_000010.9:g.124211267_124211268delinsTG | NCBI36 |
| NG_011554.1:g.5237_5238delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.109_110delinsTG MANE Select | ENSP00000357980.3:p.Cys37= | |
| ENST00000648167.1:c.154+3052_154+3053delinsTG | ENSP00000498033.1:n.154+3052_154+3053deli... | |
| ENST00000368984.7:c.109_110delinsTG | ENSP00000357980.3:p.Cys37= | |
| NM_002775.4:c.109_110delinsTG | NP_002766.1:p.Cys37= | |
| NM_002775.5:c.109_110delinsTG MANE Select | NP_002766.1:p.Cys37= |