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"SMAD4", "hgvs": [ "ENST00000592186.5:c.754G>T" ], "proteinEffect": { "hgvs": "ENSP00000468611.1:p.Gly252Ter", "hgvsWellDefined": "ENSP00000468611.1:p.Gly252_Leu320delinsPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393389" }, { "@id": "http://reg.genome.network/allele/PA2829602677", "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.5:c.754G>T", "LRG_318t1:c.754G>T" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Gly252Ter", "hgvsWellDefined": "NP_005350.1:p.Gly252_Asp552delinsPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030461" }, { "@id": "http://reg.genome.network/allele/PA2829602677", "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.6:c.754G>T" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Gly252Ter", "hgvsWellDefined": "NP_005350.1:p.Gly252_Asp552delinsPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696402", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.754G>T" }, "RefSeq": { "hgvs": "NM_005359.6:c.754G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Gly252Ter" }, "RefSeq": { "hgvs": "NP_005350.1:p.Gly252Ter" } } } } ], "type": "nucleotide" }