Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152619_80152622del , CM000677.2:g.80152619_80152622del | GRCh38 |
| NC_000015.9:g.80444961_80444964del , CM000677.1:g.80444961_80444964del | GRCh37 |
| NC_000015.8:g.78232016_78232019del | NCBI36 |
| NG_012833.1:g.4621_4624del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+74_-30+77del | ENSP00000453152.1:n.-30+74_-30+77del |