Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152638_80152639del , CM000677.2:g.80152638_80152639del | GRCh38 |
| NC_000015.9:g.80444980_80444981del , CM000677.1:g.80444980_80444981del | GRCh37 |
| NC_000015.8:g.78232035_78232036del | NCBI36 |
| NG_012833.1:g.4640_4641del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+93_-30+94del | ENSP00000453152.1:n.-30+93_-30+94del |