Linked Data
ClinVar Variation Id:
1227369
dbSNP Id:
rs528974321
ExAC:
22:41548203 CT / C
gnomAD v2:
22-41548203-CT-C
gnomAD v3:
22-41152199-CT-C
gnomAD v4:
22-41152199-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41152203del , CM000684.2:g.41152203del | GRCh38 |
| NC_000022.10:g.41548207del , CM000684.1:g.41548207del | GRCh37 |
| NC_000022.9:g.39878153del | NCBI36 |
| NG_009817.1:g.64594del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*918-3del | ENSP00000515365.1:n.*918-3del | |
| ENST00000703545.1:c.2788-3del | ||
| ENST00000263253.9:c.2998-3del MANE Select | ENSP00000263253.7:n.2998-3del | |
| ENST00000674155.1:c.2920-3del | ENSP00000501078.1:n.2920-3del | |
| ENST00000263253.8:c.2998-3del | ENSP00000263253.7:n.2998-3del | |
| NM_001429.3:c.2998-3del | NP_001420.2:n.2998-3del | |
| XM_006724165.2:c.2920-3del | XP_006724228.1:n.2920-3del | |
| NM_001362843.1:c.2920-3del | NP_001349772.1:n.2920-3del | |
| NM_001429.4:c.2998-3del MANE Select | NP_001420.2:n.2998-3del | |
| NM_001362843.2:c.2920-3del | NP_001349772.1:n.2920-3del |