Linked Data
ClinVar Variation Id:
402196
ClinVar RCV Id:
RCV000454285
dbSNP Id:
rs1554226470
MyVariant Identifiers:
chr6:g.86243455dupT (hg19)
chr6:g.86243454_86243455insT (hg19)
chr6:g.85533737dupT (hg38)
chr6:g.85533736_85533737insT (hg38)
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85533737dup , CM000668.2:g.85533737dup | GRCh38 |
| NC_000006.11:g.86243455dup , CM000668.1:g.86243455dup | GRCh37 |
| NC_000006.10:g.86300174dup | NCBI36 |
| NG_047171.1:g.65420dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369635.7:c.*554dup | ENSP00000358649.3:n.*554dup | |
| ENST00000508658.6:c.1672dup | ENSP00000422814.2:p.Thr558AsnfsTer11 | |
| ENST00000509338.6:c.1389+9445dup | ENSP00000424302.2:n.1389+9445dup | |
| ENST00000514801.2:n.889dup | ||
| ENST00000515216.6:c.1672dup | ENSP00000425630.2:p.Thr558AsnfsTer11 | |
| ENST00000681965.1:c.2810dup | ENSP00000507317.1:n.2810dup | |
| ENST00000681981.1:c.1672dup | ENSP00000507672.1:p.Thr558AsnfsTer11 | |
| ENST00000682022.1:c.*1564dup | ENSP00000508118.1:n.*1564dup | |
| ENST00000682023.1:c.*1295dup | ENSP00000507998.1:n.*1295dup | |
| ENST00000682034.1:c.*839dup | ENSP00000506724.1:n.*839dup | |
| ENST00000682057.1:c.*1101dup | ENSP00000507883.1:n.*1101dup | |
| ENST00000682083.1:c.*1582dup | ENSP00000506859.1:n.*1582dup | |
| ENST00000682106.1:n.4198dup | ||
| ENST00000682133.1:c.1669dup | ENSP00000507001.1:p.Thr557AsnfsTer11 | |
| ENST00000682171.1:c.1513dup | ENSP00000508327.1:p.Thr505AsnfsTer11 | |
| ENST00000682174.1:c.*1295dup | ENSP00000507248.1:n.*1295dup | |
| ENST00000682374.1:c.*218dup | ENSP00000507425.1:n.*218dup | |
| ENST00000682412.1:c.1512dup | ENSP00000507297.1:n.1512dup | |
| ENST00000682454.1:c.*1035dup | ENSP00000507851.1:n.*1035dup | |
| ENST00000682455.1:c.*2650dup | ENSP00000507586.1:n.*2650dup | |
| ENST00000682464.1:c.1672dup | ENSP00000507625.1:p.Thr558AsnfsTer11 | |
| ENST00000682491.1:c.1384dup | ENSP00000506970.1:p.Thr462AsnfsTer11 | |
| ENST00000682497.1:c.1669dup | ENSP00000507869.1:p.Thr557AsnfsTer11 | |
| ENST00000682504.1:c.*1578dup | ENSP00000507623.1:n.*1578dup | |
| ENST00000682514.1:n.1719dup | ||
| ENST00000682594.1:n.2034dup | ||
| ENST00000682633.1:c.1513dup | ENSP00000507843.1:p.Thr505AsnfsTer11 | |
| ENST00000682660.1:c.1672dup | ENSP00000507539.1:p.Thr558AsnfsTer11 | |
| ENST00000682682.1:c.1672dup | ENSP00000507777.1:p.Thr558AsnfsTer11 | |
| ENST00000682688.1:c.*423dup | ENSP00000507097.1:n.*423dup | |
| ENST00000682694.1:c.*1035dup | ENSP00000507387.1:n.*1035dup | |
| ENST00000682709.1:n.1851dup | ||
| ENST00000682738.1:c.1645dup | ENSP00000507742.1:p.Thr549AsnfsTer11 | |
| ENST00000682776.1:c.*423dup | ENSP00000507490.1:n.*423dup | |
| ENST00000682854.1:c.*1660dup | ENSP00000507257.1:n.*1660dup | |
| ENST00000682878.1:c.*1360dup | ENSP00000507360.1:n.*1360dup | |
| ENST00000682926.1:n.1079dup | ||
| ENST00000682939.1:c.1384dup | ENSP00000506902.1:p.Thr462AsnfsTer11 | |
| ENST00000682991.1:c.1453dup | ENSP00000508193.1:p.Thr485AsnfsTer11 | |
| ENST00000682995.1:c.*396dup | ENSP00000506807.1:n.*396dup | |
| ENST00000683073.1:c.1608+3055dup | ENSP00000507270.1:n.1608+3055dup | |
| ENST00000683074.1:c.*1582dup | ENSP00000507008.1:n.*1582dup | |
| ENST00000683085.1:c.1672dup | ENSP00000507993.1:p.Thr558AsnfsTer11 | |
| ENST00000683097.1:c.*42dup | ENSP00000507556.1:n.*42dup | |
| ENST00000683126.1:c.*1192dup | ENSP00000507507.1:n.*1192dup | |
| ENST00000683195.1:c.*1035dup | ENSP00000508190.1:n.*1035dup | |
| ENST00000683196.1:c.*1035dup | ENSP00000508297.1:n.*1035dup | |
| ENST00000683364.1:c.*1554dup | ENSP00000507791.1:n.*1554dup | |
| ENST00000683436.1:c.*1299+9445dup | ENSP00000506874.1:n.*1299+9445dup | |
| ENST00000683458.1:c.*423dup | ENSP00000508204.1:n.*423dup | |
| ENST00000683473.1:n.1851dup | ||
| ENST00000683479.1:c.1672dup | ENSP00000507368.1:p.Thr558AsnfsTer11 | |
| ENST00000683481.1:c.*554dup | ENSP00000507015.1:n.*554dup | |
| ENST00000683541.1:c.1669dup | ENSP00000507116.1:p.Thr557AsnfsTer11 | |
| ENST00000683542.1:c.*1196dup | ENSP00000506893.1:n.*1196dup | |
| ENST00000683577.1:c.1540dup | ENSP00000507516.1:p.Thr514AsnfsTer11 | |
| ENST00000683583.1:c.*4086dup | ENSP00000507244.1:n.*4086dup | |
| ENST00000683643.1:c.1540dup | ENSP00000507444.1:p.Thr514AsnfsTer11 | |
| ENST00000683698.1:c.*1188dup | ENSP00000507000.1:n.*1188dup | |
| ENST00000683726.1:c.*1192dup | ENSP00000507744.1:n.*1192dup | |
| ENST00000683754.1:c.1591dup | ENSP00000507707.1:p.Thr531AsnfsTer11 | |
| ENST00000683759.1:n.1851dup | ||
| ENST00000683785.1:c.1537dup | ENSP00000507188.1:p.Thr513AsnfsTer11 | |
| ENST00000683803.1:c.*423dup | ENSP00000508216.1:n.*423dup | |
| ENST00000683857.1:c.*1101dup | ENSP00000508015.1:n.*1101dup | |
| ENST00000683873.1:c.*1247dup | ENSP00000506829.1:n.*1247dup | |
| ENST00000683878.1:c.*953dup | ENSP00000507449.1:n.*953dup | |
| ENST00000683880.1:c.*1196dup | ENSP00000508357.1:n.*1196dup | |
| ENST00000683898.1:c.1507dup | ENSP00000506897.1:p.Thr503AsnfsTer11 | |
| ENST00000683909.1:n.3714dup | ||
| ENST00000684017.1:n.1444dup | ||
| ENST00000684108.1:n.1851dup | ||
| ENST00000684118.1:c.1669dup | ENSP00000507950.1:p.Thr557AsnfsTer11 | |
| ENST00000684150.1:c.1513dup | ENSP00000507401.1:p.Thr505AsnfsTer11 | |
| ENST00000684220.1:c.*1554dup | ENSP00000507382.1:n.*1554dup | |
| ENST00000684239.1:c.*1297dup | ENSP00000507479.1:n.*1297dup | |
| ENST00000684273.1:c.*1165dup | ENSP00000508063.1:n.*1165dup | |
| ENST00000684281.1:c.1321dup | ENSP00000507932.1:p.Thr441AsnfsTer11 | |
| ENST00000684299.1:c.1516dup | ENSP00000507637.1:p.Thr506AsnfsTer11 | |
| ENST00000684319.1:c.1672dup | ENSP00000508346.1:p.Thr558AsnfsTer11 | |
| ENST00000684422.1:c.*1345dup | ENSP00000507146.1:n.*1345dup | |
| ENST00000684451.1:c.*977dup | ENSP00000507384.1:n.*977dup | |
| ENST00000684570.1:c.1735dup | ENSP00000508127.1:p.Thr579AsnfsTer11 | |
| ENST00000684581.1:c.1669dup | ENSP00000507294.1:p.Thr557AsnfsTer11 | |
| ENST00000684647.1:c.1381dup | ENSP00000506873.1:p.Thr461AsnfsTer11 | |
| ENST00000684680.1:c.1297dup | ENSP00000507491.1:p.Thr433AsnfsTer11 | |
| ENST00000684717.1:c.1672dup | ENSP00000507024.1:p.Thr558AsnfsTer11 | |
| ENST00000314673.8:c.1672dup MANE Select | ENSP00000313121.3:p.Thr558AsnfsTer11 | |
| ENST00000314673.7:c.1672dup | ENSP00000313121.3:p.Thr558AsnfsTer11 | |
| ENST00000346348.7:c.1513dup | ENSP00000257769.3:p.Thr505AsnfsTer11 | |
| ENST00000369627.6:c.1645dup | ENSP00000358641.2:p.Thr549AsnfsTer11 | |
| ENST00000369635.6:c.*1035dup | ENSP00000358649.2:n.*1035dup | |
| ENST00000503491.5:n.2161dup | ||
| ENST00000505648.5:c.1516dup | ENSP00000427380.1:p.Thr506AsnfsTer11 | |
| ENST00000506182.1:n.564dup | ||
| ENST00000508980.5:n.2278dup | ||
| ENST00000513865.5:c.1264+9868dup | ENSP00000420938.1:n.1264+9868dup | |
| ENST00000514801.1:n.297dup | ||
| ENST00000515216.5:c.1426dup | ENSP00000425630.1:p.Thr476AsnfsTer11 | |
| NM_001297614.2:c.1645dup | NP_001284543.1:p.Thr549AsnfsTer11 | |
| NM_001304479.1:c.1516dup | NP_001291408.1:p.Thr506AsnfsTer11 | |
| NM_020468.5:c.1513dup | NP_065201.1:p.Thr505AsnfsTer11 | |
| NM_153816.5:c.1672dup | NP_722523.1:p.Thr558AsnfsTer11 | |
| XM_005248738.3:c.1669dup | XP_005248795.1:p.Thr557AsnfsTer11 | |
| XM_005248740.3:c.1540dup | XP_005248797.1:p.Thr514AsnfsTer11 | |
| XM_011535977.1:c.1516dup | XP_011534279.1:p.Thr506AsnfsTer11 | |
| XM_011535978.1:c.1453dup | XP_011534280.1:p.Thr485AsnfsTer11 | |
| XM_011535979.1:c.1384dup | XP_011534281.1:p.Thr462AsnfsTer11 | |
| XM_011535980.1:c.517dup | XP_011534282.1:p.Thr173AsnfsTer11 | |
| XR_942523.1:n.1526dup | ||
| NM_001350532.1:c.1735dup | NP_001337461.1:p.Thr579AsnfsTer11 | |
| NM_001350533.1:c.1669dup | NP_001337462.1:p.Thr557AsnfsTer11 | |
| NM_001350534.1:c.1642dup | NP_001337463.1:p.Thr548AsnfsTer11 | |
| NM_001350535.1:c.1669dup | NP_001337464.1:p.Thr557AsnfsTer11 | |
| NM_001350536.1:c.1540dup | NP_001337465.1:p.Thr514AsnfsTer11 | |
| NM_001350537.1:c.1537dup | NP_001337466.1:p.Thr513AsnfsTer11 | |
| NM_001350538.1:c.1528dup | NP_001337467.1:p.Thr510AsnfsTer11 | |
| NM_001350539.1:c.1513dup | NP_001337468.1:p.Thr505AsnfsTer11 | |
| NM_001350540.1:c.1672dup | NP_001337469.1:p.Thr558AsnfsTer11 | |
| NM_001350541.1:c.1645dup | NP_001337470.1:p.Thr549AsnfsTer11 | |
| NM_001350542.1:c.1384dup | NP_001337471.1:p.Thr462AsnfsTer11 | |
| NM_001350543.1:c.1381dup | NP_001337472.1:p.Thr461AsnfsTer11 | |
| NM_001350544.1:c.1372dup | NP_001337473.1:p.Thr458AsnfsTer11 | |
| NM_001350545.1:c.1228dup | NP_001337474.1:p.Thr410AsnfsTer11 | |
| NM_001350546.1:c.1228dup | NP_001337475.1:p.Thr410AsnfsTer11 | |
| NM_001350547.1:c.622dup | NP_001337476.1:p.Thr208AsnfsTer11 | |
| NM_001350548.1:c.517dup | NP_001337477.1:p.Thr173AsnfsTer11 | |
| NM_001350549.1:c.517dup | NP_001337478.1:p.Thr173AsnfsTer11 | |
| NM_001350550.1:c.517dup | NP_001337479.1:p.Thr173AsnfsTer11 | |
| NM_001350551.1:c.517dup | NP_001337480.1:p.Thr173AsnfsTer11 | |
| NM_001350552.1:c.517dup | NP_001337481.1:p.Thr173AsnfsTer11 | |
| NM_001350553.1:c.490dup | NP_001337482.1:p.Thr164AsnfsTer11 | |
| NR_146774.1:n.1852dup | ||
| NR_146775.1:n.1855dup | ||
| NR_146776.1:n.1978dup | ||
| NR_146777.1:n.2106dup | ||
| NR_146778.1:n.2110dup | ||
| NR_146779.1:n.2107dup | ||
| XM_011535977.2:c.1516dup | XP_011534279.1:p.Thr506AsnfsTer11 | |
| XM_017011090.1:c.1513dup | XP_016866579.1:p.Thr505AsnfsTer11 | |
| XM_024446498.1:c.1381dup | XP_024302266.1:p.Thr461AsnfsTer11 | |
| XM_024446499.1:c.517dup | XP_024302267.1:p.Thr173AsnfsTer11 | |
| NM_153816.6:c.1672dup MANE Select | NP_722523.1:p.Thr558AsnfsTer11 | |
| NM_001297614.3:c.1645dup | NP_001284543.1:p.Thr549AsnfsTer11 | |
| NM_001304479.2:c.1516dup | NP_001291408.1:p.Thr506AsnfsTer11 | |
| NM_001350532.2:c.1735dup | NP_001337461.1:p.Thr579AsnfsTer11 | |
| NM_001350533.2:c.1669dup | NP_001337462.1:p.Thr557AsnfsTer11 | |
| NM_001350534.2:c.1642dup | NP_001337463.1:p.Thr548AsnfsTer11 | |
| NM_001350535.2:c.1669dup | NP_001337464.1:p.Thr557AsnfsTer11 | |
| NM_001350536.2:c.1540dup | NP_001337465.1:p.Thr514AsnfsTer11 | |
| NM_001350537.2:c.1537dup | NP_001337466.1:p.Thr513AsnfsTer11 | |
| NM_001350538.2:c.1528dup | NP_001337467.1:p.Thr510AsnfsTer11 | |
| NM_001350539.2:c.1513dup | NP_001337468.1:p.Thr505AsnfsTer11 | |
| NM_001350540.2:c.1672dup | NP_001337469.1:p.Thr558AsnfsTer11 | |
| NM_001350541.2:c.1645dup | NP_001337470.1:p.Thr549AsnfsTer11 | |
| NM_001350542.2:c.1384dup | NP_001337471.1:p.Thr462AsnfsTer11 | |
| NM_001350543.2:c.1381dup | NP_001337472.1:p.Thr461AsnfsTer11 | |
| NM_001350544.2:c.1372dup | NP_001337473.1:p.Thr458AsnfsTer11 | |
| NM_001350545.2:c.1228dup | NP_001337474.1:p.Thr410AsnfsTer11 | |
| NM_001350546.2:c.1228dup | NP_001337475.1:p.Thr410AsnfsTer11 | |
| NM_001350547.2:c.622dup | NP_001337476.1:p.Thr208AsnfsTer11 | |
| NM_001350548.2:c.517dup | NP_001337477.1:p.Thr173AsnfsTer11 | |
| NM_001350549.2:c.517dup | NP_001337478.1:p.Thr173AsnfsTer11 | |
| NM_001350550.2:c.517dup | NP_001337479.1:p.Thr173AsnfsTer11 | |
| NM_001350551.2:c.517dup | NP_001337480.1:p.Thr173AsnfsTer11 | |
| NM_001350552.2:c.517dup | NP_001337481.1:p.Thr173AsnfsTer11 | |
| NM_001350553.2:c.490dup | NP_001337482.1:p.Thr164AsnfsTer11 | |
| NM_020468.6:c.1513dup | NP_065201.1:p.Thr505AsnfsTer11 | |
| NR_146774.2:n.1554dup | ||
| NR_146775.2:n.1557dup | ||
| NR_146776.2:n.1680dup | ||
| NR_146777.2:n.1808dup | ||
| NR_146778.2:n.1812dup | ||
| NR_146779.2:n.1809dup |