Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152669_80152671del , CM000677.2:g.80152669_80152671del | GRCh38 |
| NC_000015.9:g.80445011_80445013del , CM000677.1:g.80445011_80445013del | GRCh37 |
| NC_000015.8:g.78232066_78232068del | NCBI36 |
| NG_012833.1:g.4671_4673del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+124_-30+126del | ENSP00000453152.1:n.-30+124_-30+126del |