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}, "referenceSequence": "http://reg.genome.network/refseq/RS090625" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523489.1:c.412C>T" ], "proteinEffect": { "hgvs": "XP_011521791.1:p.Gln138Ter", "hgvsWellDefined": "XP_011521791.1:p.Gln138_Asp637delinsValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090626" }, { "coordinates": [ { "allele": "T", "end": 1263, "endIntronDirection": "+", "endIntronOffset": 1059, "referenceAllele": "C", "start": 1263, "startIntronDirection": "+", "startIntronOffset": 1058 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.1137+1059C>T" ], "proteinEffect": { "hgvs": "NP_001304113.1:n.1137+1059C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512453" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.-469C>T" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-469C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.-673C>T" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-673C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA169689", "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Gln383Ter", "hgvsWellDefined": "NP_004351.1:p.Gln383_Asp882delinsValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525201" }, { "@id": "http://reg.genome.network/allele/PA169689", "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Gln383Ter", "hgvsWellDefined": "NP_004351.1:p.Gln383_Asp882delinsValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.1147C>T" }, "RefSeq": { "hgvs": "NM_004360.5:c.1147C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Gln383Ter" }, "RefSeq": { "hgvs": "NP_004351.1:p.Gln383Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1261, "endIntronDirection": "+", "endIntronOffset": 1059, "referenceAllele": "C", "start": 1261, "startIntronDirection": "+", "startIntronOffset": 1058 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.1137+1059C>T" ], "proteinEffect": { "hgvs": "NP_001304113.1:n.1137+1059C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684261" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.-469C>T" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-469C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.-673C>T" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-673C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }