Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152719_80152730del , CM000677.2:g.80152719_80152730del | GRCh38 |
| NC_000015.9:g.80445061_80445072del , CM000677.1:g.80445061_80445072del | GRCh37 |
| NC_000015.8:g.78232116_78232127del | NCBI36 |
| NG_012833.1:g.4721_4732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+174_-30+185del | ENSP00000453152.1:n.-30+174_-30+185del |