Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152649_80152734del , CM000677.2:g.80152649_80152734del | GRCh38 |
| NC_000015.9:g.80444991_80445076del , CM000677.1:g.80444991_80445076del | GRCh37 |
| NC_000015.8:g.78232046_78232131del | NCBI36 |
| NG_012833.1:g.4651_4736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+104_-30+189del | ENSP00000453152.1:n.-30+104_-30+189del |