Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659092del , CM000675.2:g.28659092del | GRCh38 |
| NC_000013.10:g.29233229del , CM000675.1:g.29233229del | GRCh37 |
| NC_000013.9:g.28131229del | NCBI36 |
| NG_027550.1:g.5089del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-178del | ENSP00000513414.1:n.-178del | |
| NM_015932.5:c.-93del | NP_057016.1:n.-93del |