Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152735_80152736del , CM000677.2:g.80152735_80152736del | GRCh38 |
| NC_000015.9:g.80445077_80445078del , CM000677.1:g.80445077_80445078del | GRCh37 |
| NC_000015.8:g.78232132_78232133del | NCBI36 |
| NG_012833.1:g.4737_4738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+190_-30+191del | ENSP00000453152.1:n.-30+190_-30+191del |