Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866619_40866621del , CM000679.2:g.40866619_40866621del | GRCh38 |
| NC_000017.10:g.39022871_39022873del , CM000679.1:g.39022871_39022873del | GRCh37 |
| NC_000017.9:g.36276397_36276399del | NCBI36 |
| NG_008077.1:g.5590_5592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.566_567+1del | ||
| ENST00000647902.1:c.458_459+1del | ||
| ENST00000251643.4:c.566_567+1del | ||
| NM_000223.3:c.566_567+1del | ||
| XR_934754.1:n.1500+15759_1500+15761del | ||
| XR_934754.2:n.2008+15759_2008+15761del | ||
| NM_000223.4:c.566_567+1del |