Canonical Allele Identifier: CA319115
Gene: TCF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 207540
ClinVar RCV Id: RCV000189729
dbSNP Id: rs796053424
MyVariant Identifiers: chr18:g.53017622_53017623dupCT (hg19) chr18:g.53017621_53017622insCT (hg19) chr18:g.55350391_55350392dupCT (hg38) chr18:g.55350390_55350391insCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.55350391_55350392dup , CM000680.2:g.55350391_55350392dup GRCh38
NC_000018.9:g.53017622_53017623dup , CM000680.1:g.53017622_53017623dup GRCh37
NC_000018.8:g.51168620_51168621dup NCBI36
NG_011716.1:g.243238_243239dup
NG_011716.2:g.290602_290603dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354452.8:c.516_517dup MANE Select ENSP00000346440.3:p.Val173GlufsTer?
ENST00000635822.2:c.516_517dup ENSP00000490451.1:p.Val173GlufsTer?
ENST00000635990.2:n.196_197dup
ENST00000636400.2:c.444_445dup ENSP00000490006.1:p.Val149GlufsTer?
ENST00000636751.2:c.*224_*225dup ENSP00000489783.1:n.*224_*225dup
ENST00000636822.2:c.126_127dup ENSP00000490883.1:p.Val43GlufsTer?
ENST00000637115.2:c.*406_*407dup ENSP00000490234.1:n.*406_*407dup
ENST00000637239.2:n.583_584dup
ENST00000637250.2:n.210_211dup
ENST00000638154.3:c.546_547dup ENSP00000490625.2:p.Val183GlufsTer?
ENST00000643689.1:c.126_127dup ENSP00000494380.1:p.Val43GlufsTer?
ENST00000674764.1:c.*127_*128dup ENSP00000502213.1:n.*127_*128dup
ENST00000675707.1:c.126_127dup ENSP00000501758.1:p.Val43GlufsTer?
ENST00000354452.7:c.516_517dup ENSP00000346440.3:p.Val173GlufsTer?
ENST00000356073.8:c.516_517dup ENSP00000348374.4:p.Val173GlufsTer?
ENST00000398339.5:c.822_823dup ENSP00000381382.1:p.Val275GlufsTer?
ENST00000537578.5:c.444_445dup ENSP00000440731.1:p.Val149GlufsTer?
ENST00000537856.7:c.126_127dup ENSP00000439827.2:p.Val43GlufsTer?
ENST00000540999.5:c.444_445dup ENSP00000445202.1:p.Val149GlufsTer?
ENST00000543082.5:c.390_391dup ENSP00000439656.1:p.Val131GlufsTer?
ENST00000544241.6:c.303_304dup ENSP00000441562.2:p.Val102GlufsTer?
ENST00000561992.5:c.126_127dup ENSP00000455179.1:p.Val43GlufsTer?
ENST00000562030.3:c.126_127dup ENSP00000456220.2:p.Val43GlufsTer?
ENST00000562607.5:c.126_127dup ENSP00000455071.2:p.Val43GlufsTer?
ENST00000562638.5:c.126_127dup ENSP00000456802.1:p.Val43GlufsTer?
ENST00000562680.5:n.607_608dup
ENST00000563686.5:n.371_372dup
ENST00000563824.5:c.444_445dup ENSP00000457113.2:p.Val149GlufsTer?
ENST00000564228.5:c.303_304dup ENSP00000455261.1:p.Val102GlufsTer?
ENST00000564403.6:c.516_517dup ENSP00000457263.1:p.Val173GlufsTer?
ENST00000564999.5:c.516_517dup ENSP00000457649.1:p.Val173GlufsTer?
ENST00000565018.6:c.297+53062_297+53063dup ENSP00000455984.2:n.297+53062_297+53063du...
ENST00000565580.3:n.298+53062_298+53063dup
ENST00000565908.6:c.444_445dup ENSP00000454584.2:p.Val149GlufsTer?
ENST00000566279.5:c.369+53062_369+53063dup ENSP00000456125.1:n.369+53062_369+53063du...
ENST00000566286.5:c.510_511dup ENSP00000455418.2:p.Val171GlufsTer?
ENST00000566376.3:n.196_197dup
ENST00000566514.5:c.477_478dup ENSP00000456983.2:p.Val160GlufsTer?
ENST00000566777.5:c.126_127dup ENSP00000457245.2:p.Val43GlufsTer?
ENST00000567880.5:c.369+53062_369+53063dup ENSP00000454366.1:n.369+53062_369+53063du...
ENST00000568147.5:c.480_481dup ENSP00000455163.2:p.Val161GlufsTer?
ENST00000568169.5:c.528_529dup ENSP00000457392.1:p.Val177GlufsTer?
ENST00000568186.5:c.126_127dup ENSP00000458122.1:p.Val43GlufsTer?
ENST00000568673.5:c.444_445dup ENSP00000455135.1:p.Val149GlufsTer?
ENST00000568740.5:c.441_442dup ENSP00000455346.1:p.Val148GlufsTer?
ENST00000569012.5:c.126_127dup ENSP00000455304.1:p.Val43GlufsTer?
ENST00000570177.6:c.126_127dup ENSP00000454647.1:p.Val43GlufsTer?
ENST00000590810.5:c.162_163dup ENSP00000468277.2:p.Val55GlufsTer?
ENST00000616053.4:c.297+53062_297+53063dup ENSP00000478549.1:n.297+53062_297+53063du...
ENST00000625849.2:n.376_377dup
ENST00000625925.2:c.126_127dup ENSP00000487413.1:p.Val43GlufsTer?
ENST00000626425.2:c.441_442dup ENSP00000486111.1:p.Val148GlufsTer?
ENST00000626584.2:c.-100+53062_-100+53063dup ENSP00000486072.1:n.-100+53062_-100+53063...
ENST00000626595.2:c.516_517dup ENSP00000487415.1:p.Val173GlufsTer?
ENST00000627136.2:n.490_491dup
ENST00000627685.2:c.444_445dup ENSP00000487171.1:p.Val149GlufsTer?
ENST00000628078.2:c.126_127dup ENSP00000486909.1:p.Val43GlufsTer?
ENST00000628636.2:c.126_127dup ENSP00000485755.1:p.Val43GlufsTer?
ENST00000629343.2:c.126_127dup ENSP00000486148.1:p.Val43GlufsTer?
ENST00000629387.2:c.516_517dup ENSP00000486670.1:p.Val173GlufsTer?
ENST00000630268.2:c.126_127dup ENSP00000486405.1:p.Val43GlufsTer?
ENST00000630319.2:c.285_286dup ENSP00000486215.1:p.Val96GlufsTer?
ENST00000630712.2:c.126_127dup ENSP00000487419.1:p.Val43GlufsTer?
ENST00000630828.2:c.306_307dup ENSP00000486974.1:p.Val103GlufsTer?
ENST00000631043.2:n.315_316dup
NM_001083962.1:c.516_517dup NP_001077431.1:p.Val173GlufsTer?
NM_001243226.2:c.822_823dup NP_001230155.2:p.Val275GlufsTer?
NM_001243227.1:c.444_445dup NP_001230156.1:p.Val149GlufsTer?
NM_001243228.1:c.516_517dup NP_001230157.1:p.Val173GlufsTer?
NM_001243230.1:c.510_511dup NP_001230159.1:p.Val171GlufsTer?
NM_001243231.1:c.390_391dup NP_001230160.1:p.Val131GlufsTer?
NM_001243232.1:c.303_304dup NP_001230161.1:p.Val102GlufsTer?
NM_001243233.1:c.126_127dup NP_001230162.1:p.Val43GlufsTer?
NM_001306207.1:c.444_445dup NP_001293136.1:p.Val149GlufsTer?
NM_001306208.1:c.303_304dup NP_001293137.1:p.Val102GlufsTer?
NM_003199.2:c.516_517dup NP_003190.1:p.Val173GlufsTer?
XM_005266739.3:c.444_445dup XP_005266796.2:p.Val149GlufsTer?
XM_005266741.3:c.513_514dup XP_005266798.1:p.Val172GlufsTer?
XM_005266743.3:c.444_445dup XP_005266800.1:p.Val149GlufsTer?
XM_005266744.3:c.444_445dup XP_005266801.1:p.Val149GlufsTer?
XM_005266745.3:c.441_442dup XP_005266802.1:p.Val148GlufsTer?
XM_005266747.3:c.390_391dup XP_005266804.1:p.Val131GlufsTer?
XM_005266749.3:c.306_307dup XP_005266806.1:p.Val103GlufsTer?
XM_005266752.3:c.126_127dup XP_005266809.1:p.Val43GlufsTer?
XM_005266754.3:c.126_127dup XP_005266811.1:p.Val43GlufsTer?
XM_005266755.3:c.126_127dup XP_005266812.1:p.Val43GlufsTer?
XM_006722536.2:c.516_517dup XP_006722599.1:p.Val173GlufsTer?
XM_006722537.2:c.516_517dup XP_006722600.1:p.Val173GlufsTer?
XM_006722538.2:c.441_442dup XP_006722601.1:p.Val148GlufsTer?
XM_006722539.2:c.126_127dup XP_006722602.1:p.Val43GlufsTer?
XM_006722540.2:c.126_127dup XP_006722603.1:p.Val43GlufsTer?
XM_011526154.1:c.819_820dup XP_011524456.1:p.Val274GlufsTer?
XM_011526155.1:c.822_823dup XP_011524457.1:p.Val275GlufsTer?
XM_011526156.1:c.822_823dup XP_011524458.1:p.Val275GlufsTer?
XM_011526157.1:c.819_820dup XP_011524459.1:p.Val274GlufsTer?
XM_011526158.1:c.510_511dup XP_011524460.1:p.Val171GlufsTer?
XM_011526159.1:c.126_127dup XP_011524461.1:p.Val43GlufsTer?
XM_011526160.1:c.126_127dup XP_011524462.1:p.Val43GlufsTer?
XM_011526161.1:c.126_127dup XP_011524463.1:p.Val43GlufsTer?
XM_011526162.1:c.126_127dup XP_011524464.1:p.Val43GlufsTer?
XM_011526163.1:c.126_127dup XP_011524465.1:p.Val43GlufsTer?
XM_011526164.1:c.126_127dup XP_011524466.1:p.Val43GlufsTer?
NM_001330604.2:c.516_517dup NP_001317533.1:p.Val173GlufsTer?
NM_001330605.2:c.126_127dup NP_001317534.1:p.Val43GlufsTer?
NM_001348211.1:c.390_391dup NP_001335140.1:p.Val131GlufsTer?
NM_001348212.1:c.126_127dup NP_001335141.1:p.Val43GlufsTer?
NM_001348213.1:c.126_127dup NP_001335142.1:p.Val43GlufsTer?
NM_001348217.1:c.444_445dup NP_001335146.1:p.Val149GlufsTer?
NM_001348218.1:c.444_445dup NP_001335147.1:p.Val149GlufsTer?
NM_001348219.1:c.444_445dup NP_001335148.1:p.Val149GlufsTer?
NM_001348220.1:c.441_442dup NP_001335149.1:p.Val148GlufsTer?
XM_005266739.4:c.444_445dup XP_005266796.2:p.Val149GlufsTer?
XM_005266741.4:c.513_514dup XP_005266798.1:p.Val172GlufsTer?
XM_005266745.4:c.441_442dup XP_005266802.1:p.Val148GlufsTer?
XM_005266749.4:c.306_307dup XP_005266806.1:p.Val103GlufsTer?
XM_005266752.5:c.126_127dup XP_005266809.1:p.Val43GlufsTer?
XM_005266755.5:c.126_127dup XP_005266812.1:p.Val43GlufsTer?
XM_006722536.3:c.516_517dup XP_006722599.1:p.Val173GlufsTer?
XM_006722537.3:c.516_517dup XP_006722600.1:p.Val173GlufsTer?
XM_006722538.3:c.441_442dup XP_006722601.1:p.Val148GlufsTer?
XM_017025934.2:c.441_442dup XP_016881423.1:p.Val148GlufsTer?
XM_017025935.2:c.444_445dup XP_016881424.1:p.Val149GlufsTer?
XM_017025936.2:c.444_445dup XP_016881425.1:p.Val149GlufsTer?
XM_017025937.2:c.441_442dup XP_016881426.1:p.Val148GlufsTer?
XM_017025938.2:c.513_514dup XP_016881427.1:p.Val172GlufsTer?
XM_017025940.2:c.516_517dup XP_016881429.1:p.Val173GlufsTer?
XM_017025941.2:c.516_517dup XP_016881430.1:p.Val173GlufsTer?
XM_017025942.2:c.513_514dup XP_016881431.1:p.Val172GlufsTer?
XM_017025943.2:c.516_517dup XP_016881432.1:p.Val173GlufsTer?
XM_017025944.2:c.441_442dup XP_016881433.1:p.Val148GlufsTer?
XM_017025945.2:c.444_445dup XP_016881434.1:p.Val149GlufsTer?
XM_017025946.2:c.444_445dup XP_016881435.1:p.Val149GlufsTer?
XM_017025948.2:c.441_442dup XP_016881437.1:p.Val148GlufsTer?
XM_017025950.2:c.441_442dup XP_016881439.1:p.Val148GlufsTer?
XM_017025951.2:c.390_391dup XP_016881440.1:p.Val131GlufsTer?
XM_017025952.2:c.303_304dup XP_016881441.1:p.Val102GlufsTer?
XM_017025953.2:c.306_307dup XP_016881442.1:p.Val103GlufsTer?
XM_017025954.2:c.126_127dup XP_016881443.1:p.Val43GlufsTer?
XM_017025956.2:c.126_127dup XP_016881445.1:p.Val43GlufsTer?
XM_024451240.1:c.444_445dup XP_024307008.1:p.Val149GlufsTer?
XM_024451241.1:c.279_280dup XP_024307009.1:p.Val94GlufsTer?
NM_001083962.2:c.516_517dup MANE Select NP_001077431.1:p.Val173GlufsTer?
NM_001243226.3:c.822_823dup NP_001230155.2:p.Val275GlufsTer?
NM_001243227.2:c.444_445dup NP_001230156.1:p.Val149GlufsTer?
NM_001243228.2:c.516_517dup NP_001230157.1:p.Val173GlufsTer?
NM_001243231.2:c.390_391dup NP_001230160.1:p.Val131GlufsTer?
NM_001243233.2:c.126_127dup NP_001230162.1:p.Val43GlufsTer?
NM_001330604.3:c.516_517dup NP_001317533.1:p.Val173GlufsTer?
NM_001330605.3:c.126_127dup NP_001317534.1:p.Val43GlufsTer?
NM_001348211.2:c.390_391dup NP_001335140.1:p.Val131GlufsTer?
NM_001348212.2:c.126_127dup NP_001335141.1:p.Val43GlufsTer?
NM_001348213.2:c.126_127dup NP_001335142.1:p.Val43GlufsTer?
NM_001348218.2:c.444_445dup NP_001335147.1:p.Val149GlufsTer?
NM_001348219.2:c.444_445dup NP_001335148.1:p.Val149GlufsTer?
NM_001369567.1:c.516_517dup NP_001356496.1:p.Val173GlufsTer?
NM_001369568.1:c.516_517dup NP_001356497.1:p.Val173GlufsTer?
NM_001369569.1:c.513_514dup NP_001356498.1:p.Val172GlufsTer?
NM_001369570.1:c.513_514dup NP_001356499.1:p.Val172GlufsTer?
NM_001369571.1:c.516_517dup NP_001356500.1:p.Val173GlufsTer?
NM_001369572.1:c.516_517dup NP_001356501.1:p.Val173GlufsTer?
NM_001369573.1:c.513_514dup NP_001356502.1:p.Val172GlufsTer?
NM_001369574.1:c.516_517dup NP_001356503.1:p.Val173GlufsTer?
NM_001369575.1:c.444_445dup NP_001356504.1:p.Val149GlufsTer?
NM_001369576.1:c.441_442dup NP_001356505.1:p.Val148GlufsTer?
NM_001369577.1:c.444_445dup NP_001356506.1:p.Val149GlufsTer?
NM_001369578.1:c.441_442dup NP_001356507.1:p.Val148GlufsTer?
NM_001369579.1:c.444_445dup NP_001356508.1:p.Val149GlufsTer?
NM_001369580.1:c.444_445dup NP_001356509.1:p.Val149GlufsTer?
NM_001369581.1:c.441_442dup NP_001356510.1:p.Val148GlufsTer?
NM_001369582.1:c.444_445dup NP_001356511.1:p.Val149GlufsTer?
NM_001369583.1:c.444_445dup NP_001356512.1:p.Val149GlufsTer?
NM_001369584.1:c.441_442dup NP_001356513.1:p.Val148GlufsTer?
NM_001369585.1:c.441_442dup NP_001356514.1:p.Val148GlufsTer?
NM_001369586.1:c.444_445dup NP_001356515.1:p.Val149GlufsTer?
NM_003199.3:c.516_517dup NP_003190.1:p.Val173GlufsTer?
NM_001243230.2:c.510_511dup NP_001230159.1:p.Val171GlufsTer?
Search 100 bp 5'
Search 100 bp 3'