Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26484020_26484040del , CM000684.2:g.26484020_26484040del | GRCh38 |
| NC_000022.10:g.26879986_26880006del , CM000684.1:g.26879986_26880006del | GRCh37 |
| NC_000022.9:g.25209986_25210006del | NCBI36 |
| NG_009763.2:g.4824_4844del , LRG_590:g.4824_4844del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215917.11:c.130_150del MANE Select | ENSP00000215917.6:p.Arg44_Gly50del | |
| ENST00000613968.1:c.118_138del | ENSP00000482019.1:p.Arg40_Gly46del | |
| NM_001013694.2:c.130_150del | NP_001013716.2:p.Arg44_Gly50del | |
| XM_011530178.2:c.-130_-110del | XP_011528480.1:n.-130_-110del | |
| XM_017028799.2:c.130_150del | XP_016884288.1:p.Arg44_Gly50del | |
| NM_001013694.3:c.130_150del MANE Select | NP_001013716.2:p.Arg44_Gly50del |