{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA280996", "communityStandardTitle": [ "NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=19502", "active": true, "id": "COSM19502" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27278[alleleid]", "alleleId": 27278, "preferredName": "NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12239", "RCV": [ "RCV000013026", "RCV003328153" ], "variationId": 12239 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68772210G>A?assembly=hg19", "id": "chr16:g.68772210G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68738307G>A?assembly=hg38", "id": "chr16:g.68738307G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121964875", "rs": 121964875 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-68738307-G-A?dataset=gnomad_r4", "id": "16-68738307-G-A", "variant": "16:68738307 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68738307, "referenceAllele": "G", "start": 68738306 } ], "hgvs": [ "NC_000016.10:g.68738307G>A", "CM000678.2:g.68738307G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68772210, "referenceAllele": "G", "start": 68772209 } ], "hgvs": [ "NC_000016.9:g.68772210G>A", "CM000678.1:g.68772210G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 67329711, "referenceAllele": "G", "start": 67329710 } ], "hgvs": [ "NC_000016.8:g.67329711G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 6016, "referenceAllele": "G", "start": 6015 } ], "hgvs": [ "NG_008021.1:g.6016G>A", "LRG_301:g.6016G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000781" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.10:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Trp20Ter", "hgvsWellDefined": "ENSP00000261769.4:p.Trp20_Asp882delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.59G>A" }, "RefSeq": { "hgvs": "NM_004360.5:c.59G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Trp20Ter" }, "RefSeq": { "hgvs": "NP_004351.1:p.Trp20Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "G", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.9:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Trp20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250839" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000422392.6:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000414946.2:p.Trp20Ter", "hgvsWellDefined": "ENSP00000414946.2:p.Trp20_Asp821delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287256" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566510.5:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000458139.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000458139.1:p.Trp20_Phe414delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysValCysMetValProGlyLysMetGlnLysLeuAlaSerSerGlnLeuPheIleProLeuSerProGlyLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379490" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566612.5:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000454782.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000454782.1:p.Trp20_Val537delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrPheSerSerCysTyrTrpAsnArgAspThrSerAlaAspProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379559" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000611625.4:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000481063.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000481063.1:p.Trp20_Asp903delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysValTrpTyrLeuAlaArgCysArgAsnTrpHisProHisSerCysSerTyrProCysProLeuGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValIleAsnIleIleAspAlaAspLeuProProAsnThrSerProPheThrAlaGluLeuThrHisGlyAlaSerAlaAsnTrpThrIleGlnTyrAsnAspProThrGlnGluSerIleIleLeuLysProLysMetAlaLeuGluValGlyAspTyrLysIleAsnLeuLysLeuMetAspAsnGlnAsnLysAspGlnValThrThrLeuGluValSerValCysAspCysGluGlyAlaAlaGlyValCysArgLysAlaGlnProValGluAlaGlyLeuGlnIleProAlaIleLeuGlyIleLeuGlyGlyIleLeuAlaLeuLeuIleLeuIleLeuLeuLeuLeuLeuPheLeuArgArgArgAlaValValLysGluProLeuLeuProProGluAspAspThrArgAspAsnValTyrTyrTyrAspGluGluGlyGlyGlyGluGluAspGlnAspPheAspLeuSerGlnLeuHisArgGlyLeuAspAlaArgProGluValThrArgAsnAspValAlaProThrLeuMetSerValProArgTyrLeuProArgProAlaAsnProAspGluIleGlyAsnPheIleAspGluAsnLeuLysAlaAlaAspThrAspProThrAlaProProTyrAspSerLeuLeuValPheAspTyrGluGlySerGlySerGluAlaAlaSerLeuSerSerLeuAsnSerSerGluSerAspLysAspGlnAspTyrAspTyrLeuAsnGluTrpGlyAsnArgPheLysLysLeuAlaAspMetTyrGlyGlyGlyGluAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400932" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000612417.4:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000478360.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000478360.1:p.Trp20_Phe647delinsLeuCysGlnGluProGluProCysHisProGlyPheAspAlaGluSerTyrThrPheThrValProArgArgHisLeuGluArgGlyArgValLeuGlyArgValAsnPheGluAspCysThrGlyArgGlnArgThrAlaTyrPheSerLeuAspThrArgPheLysValGlyThrAspGlyValIleThrValLysArgProLeuArgPheHisAsnProGlnIleHisPheLeuValTyrAlaTrpAspSerThrTyrArgLysPheSerThrLysValThrLeuAsnThrValGlyHisHisHisArgProProProHisGlnAlaSerValSerGlyIleGlnAlaGluLeuLeuThrPheProAsnSerSerProGlyLeuArgArgGlnLysArgAspTrpValIleProProIleSerCysProGluAsnGluLysGlyProPheProLysAsnLeuValGlnIleLysSerAsnLysAspLysGluGlyLysValPheTyrSerIleThrGlyGlnGlyAlaAspThrProProValGlyValPheIleIleGluArgGluThrGlyTrpLeuLysValThrGluProLeuAspArgGluArgIleAlaThrTyrThrLeuPheSerHisAlaValSerSerAsnGlyAsnAlaValGluAspProMetGluIleLeuIleThrValThrAspGlnAsnAspAsnLysProGluPheThrGlnGluValPheLysGlySerValMetGluGlyAlaLeuProGlyThrSerValMetGluValThrAlaThrAspAlaAspAspAspValAsnThrTyrAsnAlaAlaIleAlaTyrThrIleLeuSerGlnAspProGluLeuProAspLysAsnMetPheThrIleAsnArgAsnThrGlyValIleSerValValThrThrGlyLeuAspArgGluSerPheProThrTyrThrLeuValValGlnAlaAlaAspLeuGlnGlyGluGlyLeuSerThrThrAlaThrAlaValIleThrValThrAspThrAsnAspAsnProProIlePheAsnProThrThrTyrLysGlyGlnValProGluAsnGluAlaAsnValValIleThrThrLeuLysValThrAspAlaAspAlaProAsnThrProAlaTrpGluAlaValTyrThrIleLeuAsnAspAspGlyGlyGlnPheValValThrThrAsnProValAsnAsnAspGlyIleLeuLysThrAlaLysGlyLeuAspPheGluAlaLysGlnGlnTyrIleLeuHisValAlaValThrAsnValValProPheGluValSerLeuThrThrSerThrAlaThrValThrValAspValLeuAspValAsnGluAlaProIlePheValProProGluLysArgValGluValSerGluAspPheGlyValGlyGlnGluIleThrSerTyrThrAlaGlnGluProAspThrPheMetGluGlnLysIleThrTyrArgIleTrpArgAspThrAlaAsnTrpLeuGluIleAsnProAspThrGlyAlaIleSerThrArgAlaGluLeuAspArgGluAspPheGluHisValLysAsnSerThrTyrThrAlaLeuIleIleAlaThrAspAsnGlySerProValAlaThrGlyThrGlyThrLeuLeuLeuIleLeuSerAspValAsnAspAsnAlaProIleProGluProArgThrIlePhePheCysGluArgAsnProLysProGlnValAlaGlyLeuLeuGluProSerAspProProIleLeuAlaSerGlnSerIleGlyIleThrAspMetSerHisCysThrCysProAlaProGlnLeuProAlaIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401297" }, { "coordinates": [ { "allele": "A", "end": 166, "referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000621016.4:c.59G>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": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.3:c.59G>A", "LRG_301t1:c.59G>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": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.59G>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": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.-1557G>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.-1761G>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1761G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA197129", "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.59G>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": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.59G>A" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Trp20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.59G>A" }, "RefSeq": { "hgvs": "NM_004360.5:c.59G>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": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.59G>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": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.-1557G>A" ], "proteinEffect": { "hgvs": "NP_001304114.1:n.-1557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.-1761G>A" ], "proteinEffect": { "hgvs": "NP_001304115.1:n.-1761G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }