Linked Data
ClinVar Variation Id:
2077656
ClinVar RCV Id:
RCV002976612
dbSNP Id:
rs749656484
ExAC:
22:42459042 AGAG / A
gnomAD v2:
22-42459042-AGAG-A
gnomAD v3:
22-42063038-AGAG-A
gnomAD v4:
22-42063038-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42063042_42063044del , CM000684.2:g.42063042_42063044del | GRCh38 |
| NC_000022.10:g.42459046_42459048del , CM000684.1:g.42459046_42459048del | GRCh37 |
| NC_000022.9:g.40788992_40788994del | NCBI36 |
| NG_009247.1:g.12802_12804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.760-17_760-15del MANE Select | ENSP00000379680.3:n.760-17_760-15del | |
| ENST00000396398.7:c.760-17_760-15del | ENSP00000379680.3:n.760-17_760-15del | |
| ENST00000402937.1:c.760-17_760-15del | ENSP00000384603.1:n.760-17_760-15del | |
| ENST00000403363.5:c.760-17_760-15del | ENSP00000385283.1:n.760-17_760-15del | |
| NM_000262.2:c.760-17_760-15del | NP_000253.1:n.760-17_760-15del | |
| XM_005261615.3:c.760-17_760-15del | XP_005261672.1:n.760-17_760-15del | |
| XM_005261616.3:c.760-17_760-15del | XP_005261673.1:n.760-17_760-15del | |
| NM_001362848.1:c.760-17_760-15del | NP_001349777.1:n.760-17_760-15del | |
| NM_001362850.1:c.760-17_760-15del | NP_001349779.1:n.760-17_760-15del | |
| NM_000262.3:c.760-17_760-15del MANE Select | NP_000253.1:n.760-17_760-15del |