Linked Data
ClinVar Variation Id:
873054
ClinVar RCV Id:
RCV001093708
dbSNP Id:
rs1389218771
gnomAD v3:
16-88835269-GTGT-G
gnomAD v4:
16-88835269-GTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88835273_88835275del , CM000678.2:g.88835273_88835275del | GRCh38 |
| NC_000016.9:g.88901681_88901683del , CM000678.1:g.88901681_88901683del | GRCh37 |
| NC_000016.8:g.87429182_87429184del | NCBI36 |
| NG_008667.1:g.26695_26697del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.839_841del MANE Select | ENSP00000268695.5:p.Asn280del | |
| ENST00000268695.9:c.839_841del | ENSP00000268695.5:p.Asn280del | |
| ENST00000562593.5:n.4248_4250del | ||
| ENST00000562931.5:n.427_429del | ||
| ENST00000567525.5:c.520_522del | ENSP00000454484.1:n.520_522del | |
| ENST00000568613.5:c.958_960del | ENSP00000457921.1:n.958_960del | |
| NM_000512.4:c.839_841del | NP_000503.1:p.Asn280del | |
| XM_005256301.2:c.839_841del | XP_005256358.1:p.Asn280del | |
| XM_005256302.1:c.857_859del | XP_005256359.1:p.Asn286del | |
| XM_011522982.1:c.857_859del | XP_011521284.1:p.Asn286del | |
| XM_011522984.1:c.857_859del | XP_011521286.1:p.Asn286del | |
| NM_001323543.1:c.284_286del | NP_001310472.1:p.Asn95del | |
| NM_001323544.1:c.857_859del | NP_001310473.1:p.Asn286del | |
| XM_005256301.3:c.839_841del | XP_005256358.1:p.Asn280del | |
| XM_011522982.2:c.857_859del | XP_011521284.1:p.Asn286del | |
| XM_017023111.2:c.857_859del | XP_016878600.1:p.Asn286del | |
| XM_017023112.2:c.857_859del | XP_016878601.1:p.Asn286del | |
| XM_017023113.1:c.284_286del | XP_016878602.1:p.Asn95del | |
| NM_000512.5:c.839_841del MANE Select | NP_000503.1:p.Asn280del | |
| NM_001323543.2:c.284_286del | NP_001310472.1:p.Asn95del | |
| NM_001323544.2:c.857_859del | NP_001310473.1:p.Asn286del |