Canonical Allele Identifier: CA16043544
Gene: TCF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 374031
ClinVar RCV Id: RCV000415111 RCV000856758
dbSNP Id: rs1057518848
MyVariant Identifiers: chr18:g.52896235_52896238dupATTG (hg19) chr18:g.52896234_52896235insATTG (hg19) chr18:g.55229004_55229007dupATTG (hg38) chr18:g.55229003_55229004insATTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.55229004_55229007dup , CM000680.2:g.55229004_55229007dup GRCh38
NC_000018.9:g.52896235_52896238dup , CM000680.1:g.52896235_52896238dup GRCh37
NC_000018.8:g.51047233_51047236dup NCBI36
NG_011716.1:g.364623_364626dup
NG_011716.2:g.411987_411990dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354452.8:c.1719_1722dup MANE Select ENSP00000346440.3:p.Ala575GlnfsTer10
ENST00000635822.2:c.1599_1602dup ENSP00000490451.1:p.Ala535GlnfsTer10
ENST00000635990.2:n.1399_1402dup
ENST00000636400.2:c.1647_1650dup ENSP00000490006.1:p.Ala551GlnfsTer10
ENST00000636751.2:c.*1427_*1430dup ENSP00000489783.1:n.*1427_*1430dup
ENST00000636822.2:c.1329_1332dup ENSP00000490883.1:p.Ala445GlnfsTer10
ENST00000637115.2:c.*1597_*1600dup ENSP00000490234.1:n.*1597_*1600dup
ENST00000637169.2:c.1071_1074dup ENSP00000490832.1:p.Ala359GlnfsTer10
ENST00000637239.2:n.1774_1777dup
ENST00000637250.2:n.1413_1416dup
ENST00000637923.2:c.1317_1320dup
ENST00000638154.3:c.1746_1749dup ENSP00000490625.2:p.Ala584GlnfsTer10
ENST00000643689.1:c.1329_1332dup ENSP00000494380.1:p.Ala445GlnfsTer10
ENST00000674764.1:c.*1330_*1333dup ENSP00000502213.1:n.*1330_*1333dup
ENST00000675707.1:c.1329_1332dup ENSP00000501758.1:p.Ala445GlnfsTer10
ENST00000354452.7:c.1719_1722dup ENSP00000346440.3:p.Ala575GlnfsTer10
ENST00000356073.8:c.1707_1710dup ENSP00000348374.4:p.Ala571GlnfsTer10
ENST00000398339.5:c.2025_2028dup ENSP00000381382.1:p.Ala677GlnfsTer10
ENST00000457482.7:c.1239_1242dup ENSP00000409447.2:p.Ala415GlnfsTer10
ENST00000537578.5:c.1647_1650dup ENSP00000440731.1:p.Ala551GlnfsTer10
ENST00000537856.7:c.1317_1320dup ENSP00000439827.2:p.Ala441GlnfsTer10
ENST00000540999.5:c.1635_1638dup ENSP00000445202.1:p.Ala547GlnfsTer10
ENST00000543082.5:c.1581_1584dup ENSP00000439656.1:p.Ala529GlnfsTer10
ENST00000544241.6:c.1506_1509dup ENSP00000441562.2:p.Ala504GlnfsTer10
ENST00000561831.7:c.1227_1230dup ENSP00000457765.1:p.Ala411GlnfsTer10
ENST00000561992.5:c.1317_1320dup ENSP00000455179.1:p.Ala441GlnfsTer10
ENST00000562680.5:n.5242_5245dup
ENST00000564228.5:c.1494_1497dup ENSP00000455261.1:p.Ala500GlnfsTer10
ENST00000564403.6:c.1737_1740dup ENSP00000457263.1:p.Ala581GlnfsTer10
ENST00000564999.5:c.1707_1710dup ENSP00000457649.1:p.Ala571GlnfsTer10
ENST00000565018.6:c.1455_1458dup ENSP00000455984.2:p.Ala487GlnfsTer10
ENST00000566279.5:c.1539_1542dup ENSP00000456125.1:p.Ala515GlnfsTer10
ENST00000566286.5:c.1698_1701dup ENSP00000455418.2:p.Ala568GlnfsTer10
ENST00000567880.5:c.1527_1530dup ENSP00000454366.1:p.Ala511GlnfsTer10
ENST00000568673.5:c.1647_1650dup ENSP00000455135.1:p.Ala551GlnfsTer10
ENST00000568740.5:c.1632_1635dup ENSP00000455346.1:p.Ala546GlnfsTer10
ENST00000570177.6:c.1317_1320dup ENSP00000454647.1:p.Ala441GlnfsTer10
ENST00000570287.6:c.1227_1230dup ENSP00000455763.1:p.Ala411GlnfsTer10
ENST00000616053.4:c.1455_1458dup ENSP00000478549.1:p.Ala487GlnfsTer10
ENST00000626466.1:n.742_745dup
ENST00000626584.2:c.1059_1062dup ENSP00000486072.1:p.Ala355GlnfsTer10
ENST00000629387.2:c.1719_1722dup ENSP00000486670.1:p.Ala575GlnfsTer10
NM_001083962.1:c.1719_1722dup NP_001077431.1:p.Ala575GlnfsTer10
NM_001243226.2:c.2025_2028dup NP_001230155.2:p.Ala677GlnfsTer10
NM_001243227.1:c.1647_1650dup NP_001230156.1:p.Ala551GlnfsTer10
NM_001243228.1:c.1737_1740dup NP_001230157.1:p.Ala581GlnfsTer10
NM_001243230.1:c.1698_1701dup NP_001230159.1:p.Ala568GlnfsTer10
NM_001243231.1:c.1581_1584dup NP_001230160.1:p.Ala529GlnfsTer10
NM_001243232.1:c.1506_1509dup NP_001230161.1:p.Ala504GlnfsTer10
NM_001243233.1:c.1317_1320dup NP_001230162.1:p.Ala441GlnfsTer10
NM_001243234.1:c.1239_1242dup NP_001230163.1:p.Ala415GlnfsTer10
NM_001243235.1:c.1227_1230dup NP_001230164.1:p.Ala411GlnfsTer10
NM_001243236.1:c.1227_1230dup NP_001230165.1:p.Ala411GlnfsTer10
NM_001306207.1:c.1635_1638dup NP_001293136.1:p.Ala547GlnfsTer10
NM_001306208.1:c.1494_1497dup NP_001293137.1:p.Ala500GlnfsTer10
NM_003199.2:c.1707_1710dup NP_003190.1:p.Ala571GlnfsTer10
XM_005266739.3:c.1647_1650dup XP_005266796.2:p.Ala551GlnfsTer10
XM_005266741.3:c.1716_1719dup XP_005266798.1:p.Ala574GlnfsTer10
XM_005266743.3:c.1647_1650dup XP_005266800.1:p.Ala551GlnfsTer10
XM_005266744.3:c.1647_1650dup XP_005266801.1:p.Ala551GlnfsTer10
XM_005266745.3:c.1644_1647dup XP_005266802.1:p.Ala550GlnfsTer10
XM_005266747.3:c.1593_1596dup XP_005266804.1:p.Ala533GlnfsTer10
XM_005266749.3:c.1509_1512dup XP_005266806.1:p.Ala505GlnfsTer10
XM_005266752.3:c.1329_1332dup XP_005266809.1:p.Ala445GlnfsTer10
XM_005266754.3:c.1329_1332dup XP_005266811.1:p.Ala445GlnfsTer10
XM_005266755.3:c.1329_1332dup XP_005266812.1:p.Ala445GlnfsTer10
XM_005266761.3:c.1236_1239dup XP_005266818.1:p.Ala414GlnfsTer10
XM_006722536.2:c.1719_1722dup XP_006722599.1:p.Ala575GlnfsTer10
XM_006722537.2:c.1719_1722dup XP_006722600.1:p.Ala575GlnfsTer10
XM_006722538.2:c.1644_1647dup XP_006722601.1:p.Ala550GlnfsTer10
XM_006722539.2:c.1329_1332dup XP_006722602.1:p.Ala445GlnfsTer10
XM_006722540.2:c.1317_1320dup XP_006722603.1:p.Ala441GlnfsTer10
XM_011526154.1:c.2022_2025dup XP_011524456.1:p.Ala676GlnfsTer10
XM_011526155.1:c.2022_2025dup XP_011524457.1:p.Ala676GlnfsTer10
XM_011526156.1:c.2013_2016dup XP_011524458.1:p.Ala673GlnfsTer10
XM_011526157.1:c.2010_2013dup XP_011524459.1:p.Ala672GlnfsTer10
XM_011526158.1:c.1713_1716dup XP_011524460.1:p.Ala573GlnfsTer10
XM_011526159.1:c.1329_1332dup XP_011524461.1:p.Ala445GlnfsTer10
XM_011526160.1:c.1329_1332dup XP_011524462.1:p.Ala445GlnfsTer10
XM_011526161.1:c.1329_1332dup XP_011524463.1:p.Ala445GlnfsTer10
XM_011526162.1:c.1329_1332dup XP_011524464.1:p.Ala445GlnfsTer10
XM_011526163.1:c.1329_1332dup XP_011524465.1:p.Ala445GlnfsTer10
XM_011526164.1:c.1317_1320dup XP_011524466.1:p.Ala441GlnfsTer10
NM_001330604.2:c.1716_1719dup NP_001317533.1:p.Ala574GlnfsTer10
NM_001330605.2:c.1329_1332dup NP_001317534.1:p.Ala445GlnfsTer10
NM_001348211.1:c.1593_1596dup NP_001335140.1:p.Ala533GlnfsTer10
NM_001348212.1:c.1317_1320dup NP_001335141.1:p.Ala441GlnfsTer10
NM_001348213.1:c.1329_1332dup NP_001335142.1:p.Ala445GlnfsTer10
NM_001348214.1:c.1224_1227dup NP_001335143.1:p.Ala410GlnfsTer10
NM_001348215.1:c.1071_1074dup NP_001335144.1:p.Ala359GlnfsTer10
NM_001348216.1:c.1239_1242dup NP_001335145.1:p.Ala415GlnfsTer10
NM_001348217.1:c.1647_1650dup NP_001335146.1:p.Ala551GlnfsTer10
NM_001348218.1:c.1647_1650dup NP_001335147.1:p.Ala551GlnfsTer10
NM_001348219.1:c.1635_1638dup NP_001335148.1:p.Ala547GlnfsTer10
NM_001348220.1:c.1632_1635dup NP_001335149.1:p.Ala546GlnfsTer10
XM_005266739.4:c.1647_1650dup XP_005266796.2:p.Ala551GlnfsTer10
XM_005266741.4:c.1716_1719dup XP_005266798.1:p.Ala574GlnfsTer10
XM_005266745.4:c.1644_1647dup XP_005266802.1:p.Ala550GlnfsTer10
XM_005266749.4:c.1509_1512dup XP_005266806.1:p.Ala505GlnfsTer10
XM_005266752.5:c.1329_1332dup XP_005266809.1:p.Ala445GlnfsTer10
XM_005266755.5:c.1329_1332dup XP_005266812.1:p.Ala445GlnfsTer10
XM_005266761.4:c.1236_1239dup XP_005266818.1:p.Ala414GlnfsTer10
XM_006722536.3:c.1719_1722dup XP_006722599.1:p.Ala575GlnfsTer10
XM_006722537.3:c.1719_1722dup XP_006722600.1:p.Ala575GlnfsTer10
XM_006722538.3:c.1644_1647dup XP_006722601.1:p.Ala550GlnfsTer10
XM_017025934.2:c.1644_1647dup XP_016881423.1:p.Ala550GlnfsTer10
XM_017025935.2:c.1644_1647dup XP_016881424.1:p.Ala550GlnfsTer10
XM_017025936.2:c.1635_1638dup XP_016881425.1:p.Ala547GlnfsTer10
XM_017025937.2:c.1632_1635dup XP_016881426.1:p.Ala546GlnfsTer10
XM_017025938.2:c.1716_1719dup XP_016881427.1:p.Ala574GlnfsTer10
XM_017025940.2:c.1707_1710dup XP_016881429.1:p.Ala571GlnfsTer10
XM_017025941.2:c.1707_1710dup XP_016881430.1:p.Ala571GlnfsTer10
XM_017025942.2:c.1704_1707dup XP_016881431.1:p.Ala570GlnfsTer10
XM_017025943.2:c.1704_1707dup XP_016881432.1:p.Ala570GlnfsTer10
XM_017025944.2:c.1644_1647dup XP_016881433.1:p.Ala550GlnfsTer10
XM_017025945.2:c.1644_1647dup XP_016881434.1:p.Ala550GlnfsTer10
XM_017025946.2:c.1635_1638dup XP_016881435.1:p.Ala547GlnfsTer10
XM_017025948.2:c.1632_1635dup XP_016881437.1:p.Ala546GlnfsTer10
XM_017025950.2:c.1629_1632dup XP_016881439.1:p.Ala545GlnfsTer10
XM_017025951.2:c.1590_1593dup XP_016881440.1:p.Ala532GlnfsTer10
XM_017025952.2:c.1503_1506dup XP_016881441.1:p.Ala503GlnfsTer10
XM_017025953.2:c.1497_1500dup XP_016881442.1:p.Ala501GlnfsTer10
XM_017025954.2:c.1326_1329dup XP_016881443.1:p.Ala444GlnfsTer10
XM_017025956.2:c.1317_1320dup XP_016881445.1:p.Ala441GlnfsTer10
XM_024451240.1:c.1644_1647dup XP_024307008.1:p.Ala550GlnfsTer10
XM_024451241.1:c.1482_1485dup XP_024307009.1:p.Ala496GlnfsTer10
NM_001083962.2:c.1719_1722dup MANE Select NP_001077431.1:p.Ala575GlnfsTer10
NM_001243226.3:c.2025_2028dup NP_001230155.2:p.Ala677GlnfsTer10
NM_001243227.2:c.1647_1650dup NP_001230156.1:p.Ala551GlnfsTer10
NM_001243228.2:c.1737_1740dup NP_001230157.1:p.Ala581GlnfsTer10
NM_001243231.2:c.1581_1584dup NP_001230160.1:p.Ala529GlnfsTer10
NM_001243233.2:c.1317_1320dup NP_001230162.1:p.Ala441GlnfsTer10
NM_001243234.2:c.1239_1242dup NP_001230163.1:p.Ala415GlnfsTer10
NM_001243235.2:c.1227_1230dup NP_001230164.1:p.Ala411GlnfsTer10
NM_001243236.2:c.1227_1230dup NP_001230165.1:p.Ala411GlnfsTer10
NM_001330604.3:c.1716_1719dup NP_001317533.1:p.Ala574GlnfsTer10
NM_001330605.3:c.1329_1332dup NP_001317534.1:p.Ala445GlnfsTer10
NM_001348211.2:c.1593_1596dup NP_001335140.1:p.Ala533GlnfsTer10
NM_001348212.2:c.1317_1320dup NP_001335141.1:p.Ala441GlnfsTer10
NM_001348213.2:c.1329_1332dup NP_001335142.1:p.Ala445GlnfsTer10
NM_001348214.2:c.1224_1227dup NP_001335143.1:p.Ala410GlnfsTer10
NM_001348215.2:c.1071_1074dup NP_001335144.1:p.Ala359GlnfsTer10
NM_001348216.2:c.1239_1242dup NP_001335145.1:p.Ala415GlnfsTer10
NM_001348218.2:c.1647_1650dup NP_001335147.1:p.Ala551GlnfsTer10
NM_001348219.2:c.1635_1638dup NP_001335148.1:p.Ala547GlnfsTer10
NM_001369567.1:c.1719_1722dup NP_001356496.1:p.Ala575GlnfsTer10
NM_001369568.1:c.1719_1722dup NP_001356497.1:p.Ala575GlnfsTer10
NM_001369569.1:c.1716_1719dup NP_001356498.1:p.Ala574GlnfsTer10
NM_001369570.1:c.1716_1719dup NP_001356499.1:p.Ala574GlnfsTer10
NM_001369571.1:c.1707_1710dup NP_001356500.1:p.Ala571GlnfsTer10
NM_001369572.1:c.1707_1710dup NP_001356501.1:p.Ala571GlnfsTer10
NM_001369573.1:c.1704_1707dup NP_001356502.1:p.Ala570GlnfsTer10
NM_001369574.1:c.1704_1707dup NP_001356503.1:p.Ala570GlnfsTer10
NM_001369575.1:c.1647_1650dup NP_001356504.1:p.Ala551GlnfsTer10
NM_001369576.1:c.1644_1647dup NP_001356505.1:p.Ala550GlnfsTer10
NM_001369577.1:c.1644_1647dup NP_001356506.1:p.Ala550GlnfsTer10
NM_001369578.1:c.1644_1647dup NP_001356507.1:p.Ala550GlnfsTer10
NM_001369579.1:c.1644_1647dup NP_001356508.1:p.Ala550GlnfsTer10
NM_001369580.1:c.1644_1647dup NP_001356509.1:p.Ala550GlnfsTer10
NM_001369581.1:c.1644_1647dup NP_001356510.1:p.Ala550GlnfsTer10
NM_001369582.1:c.1635_1638dup NP_001356511.1:p.Ala547GlnfsTer10
NM_001369583.1:c.1635_1638dup NP_001356512.1:p.Ala547GlnfsTer10
NM_001369584.1:c.1632_1635dup NP_001356513.1:p.Ala546GlnfsTer10
NM_001369585.1:c.1632_1635dup NP_001356514.1:p.Ala546GlnfsTer10
NM_001369586.1:c.1650_1653dup NP_001356515.1:p.Ala552GlnfsTer10
NM_003199.3:c.1707_1710dup NP_003190.1:p.Ala571GlnfsTer10
NM_001243230.2:c.1698_1701dup NP_001230159.1:p.Ala568GlnfsTer10
Search 100 bp 5'
Search 100 bp 3'