Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152602_80152603del , CM000677.2:g.80152602_80152603del | GRCh38 |
| NC_000015.9:g.80444944_80444945del , CM000677.1:g.80444944_80444945del | GRCh37 |
| NC_000015.8:g.78231999_78232000del | NCBI36 |
| NG_012833.1:g.4604_4605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+57_-30+58del | ENSP00000453152.1:n.-30+57_-30+58del |