{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA197127", "communityStandardTitle": [ "NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184313[alleleid]", "alleleId": 184313, "preferredName": "NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187239", "RCV": [ "RCV000166954", "RCV000991085", "RCV003328261" ], "variationId": 187239 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68772211G>A?assembly=hg19", "id": "chr16:g.68772211G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68738308G>A?assembly=hg38", "id": "chr16:g.68738308G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786203576", "rs": 786203576 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68738308, "referenceAllele": "G", "start": 68738307 } ], "hgvs": [ "NC_000016.10:g.68738308G>A", "CM000678.2:g.68738308G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68772211, "referenceAllele": "G", "start": 68772210 } ], "hgvs": [ "NC_000016.9:g.68772211G>A", "CM000678.1:g.68772211G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 67329712, "referenceAllele": "G", "start": 67329711 } ], "hgvs": [ "NC_000016.8:g.67329712G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 6017, "referenceAllele": "G", "start": 6016 } ], "hgvs": [ "NG_008021.1:g.6017G>A", "LRG_301:g.6017G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000781" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.10:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Trp20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.60G>A" }, "RefSeq": { "hgvs": "NM_004360.5:c.60G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Trp20Ter" }, "RefSeq": { "hgvs": "NP_004351.1:p.Trp20Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.9:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Trp20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250839" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000422392.6:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000414946.2:p.Trp20Ter", "hgvsWellDefined": "ENSP00000414946.2:p.Trp20_Asp821delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287256" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566510.5:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000458139.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000458139.1:p.Trp20_Phe414delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysValCysMetValProGlyLysMetGlnLysLeuAlaSerSerGlnLeuPheIleProLeuSerProGlyLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379490" }, { "coordinates": [ { "allele": "A", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566612.5:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000454782.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000454782.1:p.Trp20_Val537delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrPheSerSerCysTyrTrpAsnArgAspThrSerAlaAspProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379559" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000611625.4:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000481063.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000481063.1:p.Trp20_Asp903delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysValTrpTyrLeuAlaArgCysArgAsnTrpHisProHisSerCysSerTyrProCysProLeuGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400932" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000612417.4:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000478360.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000478360.1:p.Trp20_Phe647delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValAlaGlyLeuLeuGluProSerAspProProIleLeuAlaSerGlnSerIleGlyIleThrAspMetSerHisCysThrCysProAlaProGlnLeuProAlaIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401297" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000621016.4:c.60G>A" ], "proteinEffect": { "hgvs": "ENSP00000480664.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000480664.1:p.Trp20_Phe647delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnLeuAlaSerGlnSerIleGlyIleThrAspMetSerHisCysThrCysProAlaProGlnLeuProAlaIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405076" }, { "@id": "http://reg.genome.network/allele/PA197129", "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.3:c.60G>A", "LRG_301t1:c.60G>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Trp20Ter", "hgvsWellDefined": "NP_004351.1:p.Trp20_Asp882delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029525" }, { "@id": "http://reg.genome.network/allele/PA2826958489", "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.60G>A" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Trp20Ter", "hgvsWellDefined": "NP_001304113.1:p.Trp20_Asp821delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512453" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.-1556G>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1556G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.-1760G>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1760G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA197129", "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.60G>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Trp20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS525201" }, { "@id": "http://reg.genome.network/allele/PA197129", "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.60G>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Trp20Ter", "hgvsWellDefined": "NP_004351.1:p.Trp20_Asp882delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.60G>A" }, "RefSeq": { "hgvs": "NM_004360.5:c.60G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Trp20Ter" }, "RefSeq": { "hgvs": "NP_004351.1:p.Trp20Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826958489", "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.60G>A" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Trp20Ter", "hgvsWellDefined": "NP_001304113.1:p.Trp20_Asp821delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684261" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.-1556G>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1556G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.-1760G>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1760G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }