Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152669_80152670insGAGGGCGG , CM000677.2:g.80152669_80152670insGAGGGCGG | GRCh38 |
| NC_000015.9:g.80445011_80445012insGAGGGCGG , CM000677.1:g.80445011_80445012insGAGGGCGG | GRCh37 |
| NC_000015.8:g.78232066_78232067insGAGGGCGG | NCBI36 |
| NG_012833.1:g.4671_4672insGAGGGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+124_-30+125insGAGGGCGG | ENSP00000453152.1:n.-30+124_-30+125insGAGGGCGG |