Canonical Allele Identifier: CA130427
Gene: CTNNB1 HGNC NCBI

Linked Data

dbSNP Id: rs398122907
MyVariant Identifiers: chr3:g.41275106_41275109del (hg19) chr3:g.41233615_41233618del (hg38)
PubMed: PMID:23033978
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.41233615_41233618del , CM000665.2:g.41233615_41233618del GRCh38
NC_000003.11:g.41275106_41275109del , CM000665.1:g.41275106_41275109del GRCh37
NC_000003.10:g.41250110_41250113del NCBI36
NG_013302.1:g.39165_39168del
NG_013302.2:g.39165_39168del

Transcript Alleles

HGVS Amino-acid change
ENST00000349496.11:c.1272_1275del MANE Select ENSP00000344456.5:p.Ser425ThrfsTer11
ENST00000396185.8:c.1272_1275del ENSP00000379488.3:p.Ser425ThrfsTer11
ENST00000405570.6:c.1272_1275del ENSP00000385604.1:p.Ser425ThrfsTer11
ENST00000431914.6:c.1272_1275del ENSP00000412219.2:p.Ser425ThrfsTer11
ENST00000433400.6:c.1272_1275del ENSP00000387455.2:p.Ser425ThrfsTer11
ENST00000441708.2:c.1272_1275del ENSP00000401599.2:p.Ser425ThrfsTer11
ENST00000450969.6:c.1272_1275del ENSP00000409302.2:p.Ser425ThrfsTer11
ENST00000453024.6:c.1251_1254del ENSP00000411226.1:p.Ser418ThrfsTer11
ENST00000485265.2:n.207_210del
ENST00000642248.1:c.1272_1275del ENSP00000495244.1:p.Ser425ThrfsTer11
ENST00000642315.1:c.1272_1275del ENSP00000495076.1:p.Ser425ThrfsTer11
ENST00000642426.1:c.1272_1275del ENSP00000495719.1:p.Ser425ThrfsTer11
ENST00000642836.1:c.1251_1254del ENSP00000496295.1:p.Ser418ThrfsTer11
ENST00000642886.1:c.1161_1164del ENSP00000496020.1:p.Ser388ThrfsTer11
ENST00000642986.1:c.1140_1143del ENSP00000494422.1:p.Ser381ThrfsTer11
ENST00000642992.1:c.1272_1275del ENSP00000496385.1:p.Ser425ThrfsTer11
ENST00000643031.1:c.1272_1275del ENSP00000495450.1:p.Ser425ThrfsTer11
ENST00000643052.1:n.1504_1507del
ENST00000643297.1:c.1272_1275del ENSP00000494677.1:p.Ser425ThrfsTer11
ENST00000643541.1:c.1272_1275del ENSP00000494411.1:p.Ser425ThrfsTer11
ENST00000643865.1:n.1388_1391del
ENST00000643977.1:c.1272_1275del ENSP00000494053.1:p.Ser425ThrfsTer11
ENST00000643992.1:c.1272_1275del ENSP00000493610.1:p.Ser425ThrfsTer11
ENST00000644138.1:c.1272_1275del ENSP00000496649.1:p.Ser425ThrfsTer11
ENST00000644524.1:c.1251_1254del ENSP00000494780.1:p.Ser418ThrfsTer11
ENST00000644678.1:c.1251_1254del ENSP00000495794.1:p.Ser418ThrfsTer11
ENST00000644867.1:c.1272_1275del ENSP00000495992.1:p.Ser425ThrfsTer11
ENST00000644873.1:c.1272_1275del ENSP00000496511.1:p.Ser425ThrfsTer11
ENST00000644906.1:c.111_114del ENSP00000496584.1:p.Ser38ThrfsTer11
ENST00000645210.1:c.1272_1275del ENSP00000496180.1:p.Ser425ThrfsTer11
ENST00000645276.1:c.1278_1281del ENSP00000494654.1:p.Ser427ThrfsTer11
ENST00000645305.1:n.1676_1679del
ENST00000645320.1:c.1272_1275del ENSP00000495360.1:p.Ser425ThrfsTer11
ENST00000645493.1:c.1251_1254del ENSP00000494467.1:p.Ser418ThrfsTer11
ENST00000645763.1:n.338_341del
ENST00000645900.1:c.1251_1254del ENSP00000495286.1:p.Ser418ThrfsTer11
ENST00000645927.1:c.286_289del
ENST00000645982.1:c.1272_1275del ENSP00000494845.1:p.Ser425ThrfsTer11
ENST00000646074.1:c.1272_1275del ENSP00000494263.1:p.Ser425ThrfsTer11
ENST00000646116.1:c.1251_1254del ENSP00000495426.1:p.Ser418ThrfsTer11
ENST00000646174.1:c.1251_1254del ENSP00000495161.1:p.Ser418ThrfsTer11
ENST00000646369.1:c.1272_1275del ENSP00000494914.1:p.Ser425ThrfsTer11
ENST00000646381.1:c.1251_1254del ENSP00000496067.1:p.Ser418ThrfsTer11
ENST00000646725.1:c.1272_1275del ENSP00000496021.1:p.Ser425ThrfsTer11
ENST00000647021.1:n.1793_1796del
ENST00000647264.1:c.1251_1254del ENSP00000494849.1:p.Ser418ThrfsTer11
ENST00000647390.1:c.1272_1275del ENSP00000493533.1:p.Ser425ThrfsTer11
ENST00000647413.1:c.1272_1275del ENSP00000493583.1:p.Ser425ThrfsTer11
ENST00000349496.9:c.1272_1275del ENSP00000344456.5:p.Ser425ThrfsTer11
ENST00000396183.7:c.1272_1275del ENSP00000379486.3:p.Ser425ThrfsTer11
ENST00000396185.7:c.1272_1275del ENSP00000379488.3:p.Ser425ThrfsTer11
ENST00000405570.5:c.1272_1275del ENSP00000385604.1:p.Ser425ThrfsTer11
ENST00000453024.5:c.1251_1254del ENSP00000411226.1:p.Ser418ThrfsTer11
NM_001098209.1:c.1272_1275del NP_001091679.1:p.Ser425ThrfsTer11
NM_001098210.1:c.1272_1275del NP_001091680.1:p.Ser425ThrfsTer11
NM_001904.3:c.1272_1275del NP_001895.1:p.Ser425ThrfsTer11
XM_005264886.2:c.1272_1275del XP_005264943.1:p.Ser425ThrfsTer11
XM_006712983.1:c.1251_1254del XP_006713046.1:p.Ser418ThrfsTer11
XM_006712984.1:c.1251_1254del XP_006713047.1:p.Ser418ThrfsTer11
XM_006712985.1:c.1272_1275del XP_006713048.1:p.Ser425ThrfsTer11
NM_001330729.1:c.1251_1254del NP_001317658.1:p.Ser418ThrfsTer11
XM_006712983.2:c.1251_1254del XP_006713046.1:p.Ser418ThrfsTer11
XM_017005738.1:c.1272_1275del XP_016861227.1:p.Ser425ThrfsTer11
XM_024453356.1:c.1272_1275del XP_024309124.1:p.Ser425ThrfsTer11
XM_024453357.1:c.1272_1275del XP_024309125.1:p.Ser425ThrfsTer11
XM_024453358.1:c.1272_1275del XP_024309126.1:p.Ser425ThrfsTer11
XM_024453359.1:c.1251_1254del XP_024309127.1:p.Ser418ThrfsTer11
XM_024453360.1:c.1251_1254del XP_024309128.1:p.Ser418ThrfsTer11
NM_001904.4:c.1272_1275del MANE Select NP_001895.1:p.Ser425ThrfsTer11
NM_001098209.2:c.1272_1275del NP_001091679.1:p.Ser425ThrfsTer11
NM_001098210.2:c.1272_1275del NP_001091680.1:p.Ser425ThrfsTer11
NM_001330729.2:c.1251_1254del NP_001317658.1:p.Ser418ThrfsTer11
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