Linked Data
ClinVar Variation Id:
481366
ClinVar RCV Id:
RCV000563193
dbSNP Id:
rs1553612002
gnomAD v4:
2-214728684-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728686dup , CM000664.2:g.214728686dup | GRCh38 |
| NC_000002.11:g.215593410dup , CM000664.1:g.215593410dup | GRCh37 |
| NC_000002.10:g.215301655dup | NCBI36 |
| NG_012047.2:g.86020dup | |
| NG_012047.3:g.86027dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2325dup MANE Select | ENSP00000260947.4:p.Asp776Ter | |
| ENST00000421162.2:c.972dup | ENSP00000392245.2:p.Asp325Ter | |
| ENST00000613192.2:c.*388dup | ENSP00000483275.2:n.*388dup | |
| ENST00000613374.5:c.915dup | ENSP00000484464.1:p.Asp306Ter | |
| ENST00000613706.5:c.1917dup | ENSP00000484976.2:p.Asp640Ter | |
| ENST00000617164.5:c.2268dup | ENSP00000480470.1:p.Asp757Ter | |
| ENST00000619009.5:c.786dup | ENSP00000482293.1:p.Asp263Ter | |
| ENST00000650978.1:c.3700dup | ||
| ENST00000260947.8:c.2325dup | ENSP00000260947.4:p.Asp776Ter | |
| ENST00000432456.5:c.468dup | ||
| ENST00000471590.5:n.660dup | ||
| ENST00000613192.1:c.495dup | ENSP00000483275.1:p.Asp166Ter | |
| ENST00000613374.4:c.915dup | ENSP00000484464.1:p.Asp306Ter | |
| ENST00000613706.4:c.972dup | ENSP00000484976.1:p.Asp325Ter | |
| ENST00000617164.4:c.2268dup | ENSP00000480470.1:p.Asp757Ter | |
| ENST00000619009.4:c.786dup | ENSP00000482293.1:p.Asp263Ter | |
| ENST00000620057.4:c.*991dup | ENSP00000481988.1:n.*991dup | |
| NM_000465.3:c.2325dup | NP_000456.2:p.Asp776Ter | |
| NM_001282543.1:c.2268dup | NP_001269472.1:p.Asp757Ter | |
| NM_001282545.1:c.972dup | NP_001269474.1:p.Asp325Ter | |
| NM_001282548.1:c.915dup | NP_001269477.1:p.Asp306Ter | |
| NM_001282549.1:c.786dup | NP_001269478.1:p.Asp263Ter | |
| NR_104212.1:n.2318dup | ||
| NR_104215.1:n.2261dup | ||
| NR_104216.1:n.1517dup | ||
| XM_011511567.1:c.2271dup | XP_011509869.1:p.Asp758Ter | |
| XM_017004613.1:c.2424dup | XP_016860102.1:p.Asp809Ter | |
| XR_002959322.1:n.2691dup | ||
| NM_000465.4:c.2325dup MANE Select | NP_000456.2:p.Asp776Ter | |
| NM_001282543.2:c.2268dup | NP_001269472.1:p.Asp757Ter | |
| NM_001282545.2:c.972dup | NP_001269474.1:p.Asp325Ter | |
| NM_001282548.2:c.915dup | NP_001269477.1:p.Asp306Ter | |
| NM_001282549.2:c.786dup | NP_001269478.1:p.Asp263Ter | |
| NR_104212.2:n.2290dup | ||
| NR_104215.2:n.2233dup | ||
| NR_104216.2:n.1489dup |