Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152674_80152676del , CM000677.2:g.80152674_80152676del | GRCh38 |
| NC_000015.9:g.80445016_80445018del , CM000677.1:g.80445016_80445018del | GRCh37 |
| NC_000015.8:g.78232071_78232073del | NCBI36 |
| NG_012833.1:g.4676_4678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+129_-30+131del | ENSP00000453152.1:n.-30+129_-30+131del |