Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288425_44288426insCCACAG , CM000683.2:g.44288425_44288426insCCACAG | GRCh38 |
| NC_000021.8:g.45708308_45708309insCCACAG , CM000683.1:g.45708308_45708309insCCACAG | GRCh37 |
| NC_000021.7:g.44532736_44532737insCCACAG | NCBI36 |
| NG_009556.1:g.7546_7547insCCACAG , LRG_18:g.7546_7547insCCACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.619_620insCCACAG MANE Select | ENSP00000291582.5:p.Val206_Glu207insAlaThr | |
| ENST00000291582.5:c.619_620insCCACAG | ENSP00000291582.5:p.Val206_Glu207insAlaThr | |
| ENST00000527919.5:n.1163_1164insCCACAG | ||
| ENST00000530812.5:n.1171_1172insCCACAG | ||
| NM_000383.3:c.619_620insCCACAG | NP_000374.1:p.Val206_Glu207insAlaThr | |
| XM_011529551.1:c.619_620insCCACAG | XP_011527853.1:p.Val206_Glu207insAlaThr | |
| NM_000383.4:c.619_620insCCACAG MANE Select | NP_000374.1:p.Val206_Glu207insAlaThr |