{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620236", "communityStandardTitle": [ "NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409678[alleleid]", "alleleId": 409678, "preferredName": "NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420004", "RCV": [ "RCV000480530", "RCV001078226", "RCV003328357" ], "variationId": 420004 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68842428C>A?assembly=hg19", "id": "chr16:g.68842428C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68808525C>A?assembly=hg38", "id": "chr16:g.68808525C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794230", "rs": 1064794230 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", 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"referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000564745.1:n.484C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS378294" }, { "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566510.5:c.489C>A" ], "proteinEffect": { "hgvs": "ENSP00000458139.1:p.Cys163Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566612.5:c.489C>A" ], "proteinEffect": { "hgvs": "ENSP00000454782.1:p.Cys163Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS400932" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000612417.4:c.489C>A" ], "proteinEffect": { "hgvs": "ENSP00000478360.1:p.Cys163Ter", "hgvsWellDefined": "ENSP00000478360.1:p.Cys163_Phe647delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValAlaGlyLeuLeuGluProSerAspProProIleLeuAlaSerGlnSerIleGlyIleThrAspMetSerHisCysThrCysProAlaProGlnLeuProAlaIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401297" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "C", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000621016.4:c.489C>A" ], "proteinEffect": { "hgvs": "ENSP00000480664.1:p.Cys163Ter", "hgvsWellDefined": "ENSP00000480664.1:p.Cys163_Phe647delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnLeuAlaSerGlnSerIleGlyIleThrAspMetSerHisCysThrCysProAlaProGlnLeuProAlaIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405076" }, { "@id": "http://reg.genome.network/allele/PA645373518", "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.3:c.489C>A", "LRG_301t1:c.489C>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Cys163Ter", "hgvsWellDefined": "NP_004351.1:p.Cys163_Asp882delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029525" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523488.1:c.-247C>A" ], "proteinEffect": { "hgvs": "XP_011521790.1:n.-247C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS090625" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523489.1:c.-247C>A" ], "proteinEffect": { "hgvs": "XP_011521791.1:n.-247C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS090626" }, { "@id": "http://reg.genome.network/allele/PA2826959469", "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.489C>A" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Cys163Ter", "hgvsWellDefined": "NP_001304113.1:p.Cys163_Asp821delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512453" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.-1127C>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1127C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.-1331C>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA645373518", "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.489C>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Cys163Ter", "hgvsWellDefined": "NP_004351.1:p.Cys163_Asp882delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525201" }, { "@id": "http://reg.genome.network/allele/PA645373518", "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.489C>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Cys163Ter", "hgvsWellDefined": "NP_004351.1:p.Cys163_Asp882delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.489C>A" }, "RefSeq": { "hgvs": "NM_004360.5:c.489C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Cys163Ter" }, "RefSeq": { "hgvs": "NP_004351.1:p.Cys163Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826959469", "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.489C>A" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Cys163Ter", "hgvsWellDefined": "NP_001304113.1:p.Cys163_Asp821delinsProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684261" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.-1127C>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1127C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.-1331C>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }