Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152655_80152656insGAGGGGAGGGGCGGGGG , CM000677.2:g.80152655_80152656insGAGGGGAGGGGCGGGGG | GRCh38 |
| NC_000015.9:g.80444997_80444998insGAGGGGAGGGGCGGGGG , CM000677.1:g.80444997_80444998insGAGGGGAGGGGCGGGGG | GRCh37 |
| NC_000015.8:g.78232052_78232053insGAGGGGAGGGGCGGGGG | NCBI36 |
| NG_012833.1:g.4657_4658insGAGGGGAGGGGCGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+110_-30+111insGAGGGGAGGGGCGGGGG | ENSP00000453152.1:n.-30+110_-30+111insGAGGGGAGGGGCGGGGG |