Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152621_80152629del , CM000677.2:g.80152621_80152629del | GRCh38 |
| NC_000015.9:g.80444963_80444971del , CM000677.1:g.80444963_80444971del | GRCh37 |
| NC_000015.8:g.78232018_78232026del | NCBI36 |
| NG_012833.1:g.4623_4631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+76_-30+84del | ENSP00000453152.1:n.-30+76_-30+84del |