Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287126_44287128delinsCAG , CM000683.2:g.44287126_44287128delinsCAG | GRCh38 |
| NC_000021.8:g.45707009_45707011delinsCAG , CM000683.1:g.45707009_45707011delinsCAG | GRCh37 |
| NC_000021.7:g.44531437_44531439delinsCAG | NCBI36 |
| NG_009556.1:g.6247_6249delinsCAG , LRG_18:g.6247_6249delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.456_458delinsCAG MANE Select | ENSP00000291582.5:p.Ala152= | |
| ENST00000291582.5:c.456_458delinsCAG | ENSP00000291582.5:p.Ala152= | |
| ENST00000527919.5:n.617_619delinsCAG | ||
| ENST00000530812.5:n.625_627delinsCAG | ||
| NM_000383.3:c.456_458delinsCAG | NP_000374.1:p.Ala152= | |
| XM_011529551.1:c.456_458delinsCAG | XP_011527853.1:p.Ala152= | |
| NM_000383.4:c.456_458delinsCAG MANE Select | NP_000374.1:p.Ala152= |