Linked Data
ClinVar Variation Id:
444068
dbSNP Id:
rs1476574441
gnomAD v2:
21-33671388-CG-C
gnomAD v3:
21-32299077-CG-C
gnomAD v4:
21-32299077-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32299078del , CM000683.2:g.32299078del | GRCh38 |
| NC_000021.8:g.33671389del , CM000683.1:g.33671389del | GRCh37 |
| NC_000021.7:g.32593260del | NCBI36 |
| NG_016234.1:g.12266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303645.10:c.106+1del MANE Select | ENSP00000306697.5:n.106+1del | |
| ENST00000303645.9:c.106+1del | ENSP00000306697.5:n.106+1del | |
| ENST00000339944.4:c.106+1del | ENSP00000343661.4:n.106+1del | |
| ENST00000399784.6:c.106+1del | ENSP00000382684.2:n.106+1del | |
| ENST00000497833.1:n.177+5946del | ||
| NM_001285394.1:c.-72+5946del | NP_001272323.1:n.-72+5946del | |
| NM_178817.3:c.106+1del | NP_848932.1:n.106+1del | |
| NM_206898.1:c.106+1del | NP_996781.1:n.106+1del | |
| XM_006724028.2:c.106+1del | XP_006724091.1:n.106+1del | |
| XM_006724028.3:c.106+1del | XP_006724091.1:n.106+1del | |
| XM_017028407.1:c.106+1del | XP_016883896.1:n.106+1del | |
| NM_001285394.2:c.-72+5946del | NP_001272323.1:n.-72+5946del | |
| NM_178817.4:c.106+1del | NP_848932.1:n.106+1del | |
| NM_001379228.1:c.106+1del MANE Select | NP_001366157.1:n.106+1del | |
| NM_206898.2:c.106+1del | NP_996781.1:n.106+1del |