Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152645_80152655del , CM000677.2:g.80152645_80152655del | GRCh38 |
| NC_000015.9:g.80444987_80444997del , CM000677.1:g.80444987_80444997del | GRCh37 |
| NC_000015.8:g.78232042_78232052del | NCBI36 |
| NG_012833.1:g.4647_4657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+100_-30+110del | ENSP00000453152.1:n.-30+100_-30+110del |