Linked Data
dbSNP Id:
rs2063048536
gnomAD v3:
14-65076066-G-GAGGGCGGGCCAGGAGGCCACCTGGGC
gnomAD v4:
14-65076066-G-GAGGGCGGGCCAGGAGGCCACCTGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076072_65076097dup , CM000676.2:g.65076072_65076097dup | GRCh38 |
| NC_000014.8:g.65542790_65542815dup , CM000676.1:g.65542790_65542815dup | GRCh37 |
| NC_000014.7:g.64612543_64612568dup | NCBI36 |
| NG_029830.1:g.31418_31443dup , LRG_530:g.31418_31443dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.*384_*409dup | ENSP00000452206.2:n.*384_*409dup | |
| ENST00000556979.6:c.*1320_*1345dup | ENSP00000452378.1:n.*1320_*1345dup | |
| ENST00000358664.9:c.*384_*409dup MANE Select | ENSP00000351490.4:n.*384_*409dup | |
| ENST00000651648.1:c.145-5723_145-5698dup | ENSP00000498863.1:n.145-5723_145-5698dup | |
| ENST00000284165.10:c.*1711_*1736dup | ENSP00000284165.6:n.*1711_*1736dup | |
| ENST00000341653.6:c.171+17616_171+17641dup | ENSP00000342482.2:n.171+17616_171+17641dup | |
| ENST00000358402.8:c.*384_*409dup | ENSP00000351175.4:n.*384_*409dup | |
| ENST00000358664.8:c.*384_*409dup | ENSP00000351490.4:n.*384_*409dup | |
| ENST00000394606.6:c.*640_*665dup | ENSP00000378104.2:n.*640_*665dup | |
| ENST00000555932.5:c.*359_*384dup | ENSP00000450763.1:n.*359_*384dup | |
| ENST00000618858.4:c.*656_*681dup | ENSP00000480127.1:n.*656_*681dup | |
| NM_001271069.1:c.144+17616_144+17641dup | NP_001257998.1:n.144+17616_144+17641dup | |
| NM_002382.4:c.*384_*409dup | NP_002373.3:n.*384_*409dup | |
| NM_145112.2:c.*384_*409dup | NP_660087.1:n.*384_*409dup | |
| NM_145113.2:c.*656_*681dup | NP_660088.1:n.*656_*681dup | |
| NM_197957.3:c.171+17616_171+17641dup | NP_932061.1:n.171+17616_171+17641dup | |
| NR_073137.1:n.991_1016dup | ||
| XR_429315.2:n.1154_1179dup | ||
| NM_001320415.1:c.*384_*409dup | NP_001307344.1:n.*384_*409dup | |
| XM_017021312.2:c.*384_*409dup | XP_016876801.1:n.*384_*409dup | |
| XM_017021313.1:c.*384_*409dup | XP_016876802.1:n.*384_*409dup | |
| XR_001750326.2:n.1212_1237dup | ||
| XR_001750327.2:n.1131_1156dup | ||
| XR_002957553.1:n.1645_1670dup | ||
| XR_943450.3:n.1235_1260dup | ||
| XR_943451.3:n.1251_1276dup | ||
| XR_943452.3:n.1196_1221dup | ||
| NM_001320415.2:c.*384_*409dup | NP_001307344.1:n.*384_*409dup | |
| NM_002382.5:c.*384_*409dup MANE Select | NP_002373.3:n.*384_*409dup | |
| NM_145112.3:c.*384_*409dup | NP_660087.1:n.*384_*409dup | |
| NM_145113.3:c.*656_*681dup | NP_660088.1:n.*656_*681dup | |
| NM_001271069.2:c.144+17616_144+17641dup | NP_001257998.1:n.144+17616_144+17641dup | |
| NM_197957.4:c.171+17616_171+17641dup | NP_932061.1:n.171+17616_171+17641dup |