Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033339_115033342del , CM000663.2:g.115033339_115033342del | GRCh38 |
| NC_000001.10:g.115575960_115575963del , CM000663.1:g.115575960_115575963del | GRCh37 |
| NC_000001.9:g.115377483_115377486del | NCBI36 |
| NG_015891.1:g.8546_8549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-23_-1-20del MANE Select | ENSP00000256592.1:n.-1-23_-1-20del | |
| ENST00000256592.2:c.-1-23_-1-20del | ENSP00000256592.1:n.-1-23_-1-20del | |
| NM_000549.4:c.-1-23_-1-20del | NP_000540.2:n.-1-23_-1-20del | |
| XM_011542065.1:c.-24_-21del | XP_011540367.1:n.-24_-21del | |
| XM_011542065.2:c.-24_-21del | XP_011540367.1:n.-24_-21del | |
| NM_000549.5:c.-1-23_-1-20del MANE Select | NP_000540.2:n.-1-23_-1-20del |