Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39329096_39329099del , CM000675.2:g.39329096_39329099del | GRCh38 |
| NC_000013.10:g.39903233_39903236del , CM000675.1:g.39903233_39903236del | GRCh37 |
| NC_000013.9:g.38801233_38801236del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648377.1:c.*82+14756_*82+14759del | ENSP00000496801.1:n.*82+14756_*82+14759del | |
| XR_001749845.1:n.1449+7173_1449+7176del |