Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152661_80152662insGAGGGGCGGGGCGACGGG , CM000677.2:g.80152661_80152662insGAGGGGCGGGGCGACGGG | GRCh38 |
| NC_000015.9:g.80445003_80445004insGAGGGGCGGGGCGACGGG , CM000677.1:g.80445003_80445004insGAGGGGCGGGGCGACGGG | GRCh37 |
| NC_000015.8:g.78232058_78232059insGAGGGGCGGGGCGACGGG | NCBI36 |
| NG_012833.1:g.4663_4664insGAGGGGCGGGGCGACGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+116_-30+117insGAGGGGCGGGGCGACGGG | ENSP00000453152.1:n.-30+116_-30+117insGAGGGGCGGGGCGACGGG |