Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42482623_42482639del , CM000683.2:g.42482623_42482639del | GRCh38 |
| NC_000021.8:g.43902733_43902749del , CM000683.1:g.43902733_43902749del | GRCh37 |
| NC_000021.7:g.42775802_42775818del | NCBI36 |
| NG_034257.1:g.18719_18735del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.573+1_573+17del | ||
| ENST00000291536.7:c.573+1_573+17del | ||
| ENST00000398352.3:c.459+1_459+17del | ||
| ENST00000493019.1:n.2191+1_2191+17del | ||
| NM_001286506.1:c.459+1_459+17del | ||
| NM_080860.3:c.573+1_573+17del | ||
| XM_005261208.1:c.366+1_366+17del | ||
| XM_011529786.1:c.501+3033_501+3049del | XP_011528088.1:n.501+3033_501+3049del | |
| XM_005261208.2:c.366+1_366+17del | ||
| NM_080860.4:c.573+1_573+17del | ||
| NM_001286506.2:c.459+1_459+17del |