Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152591_80152592insGTGTGTAGGAG , CM000677.2:g.80152591_80152592insGTGTGTAGGAG | GRCh38 |
| NC_000015.9:g.80444933_80444934insGTGTGTAGGAG , CM000677.1:g.80444933_80444934insGTGTGTAGGAG | GRCh37 |
| NC_000015.8:g.78231988_78231989insGTGTGTAGGAG | NCBI36 |
| NG_012833.1:g.4593_4594insGTGTGTAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+46_-30+47insGTGTGTAGGAG | ENSP00000453152.1:n.-30+46_-30+47insGTGTGTAGGAG |