{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259164", "communityStandardTitle": [ "NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36139[alleleid]", "alleleId": 36139, "preferredName": "NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3445835", "RCV": [ "RCV004994835" ], "variationId": 3445835 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.48575108G>A?assembly=hg19", "id": "chr18:g.48575108G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.51048738G>A?assembly=hg38", "id": "chr18:g.51048738G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/377767323", "rs": 377767323 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 51048738, "referenceAllele": "G", "start": 51048737 } ], "hgvs": [ "NC_000018.10:g.51048738G>A", "CM000680.2:g.51048738G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 48575108, "referenceAllele": "G", "start": 48575107 } ], "hgvs": [ "NC_000018.9:g.48575108G>A", "CM000680.1:g.48575108G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 46829106, "referenceAllele": "G", "start": 46829105 } ], "hgvs": [ "NC_000018.8:g.46829106G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 85699, "referenceAllele": "G", "start": 85698 } ], "hgvs": [ "NG_013013.2:g.85699G>A", "LRG_318:g.85699G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002660" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "G", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.6:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000465878.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000465878.2:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914337" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589076.6:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000466934.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000466934.2:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914338" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.2:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000465874.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000465874.2:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914340" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.2:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000464772.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000464772.2:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914342" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000593223.2:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000466118.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000466118.2:p.Trp101_Val493delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLysTyrAlaPheHisSerPheLeuLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914349" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000611848.2:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000478613.2:p.Trp101Ter", "hgvsWellDefined": "ENSP00000478613.2:p.Trp101_Ser486delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleLysLeuAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826412" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.8:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Trp101Ter", "hgvsWellDefined": "ENSP00000341551.3:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748110", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.302G>A" }, "RefSeq": { "hgvs": "NM_005359.6:c.302G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Trp101Ter" }, "RefSeq": { "hgvs": "NP_005350.1:p.Trp101Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.7:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Trp101Ter", "hgvsWellDefined": "ENSP00000341551.3:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261669" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000398417.6:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000381452.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000381452.1:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278258" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588745.5:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000464901.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000464901.1:p.Trp101_Asp456delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrThrProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390999" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "G", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.5:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000465878.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000465878.1:p.Trp101Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391074" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589706.1:n.170G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391683" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.1:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000465874.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000465874.1:p.Trp101Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391845" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.1:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000464772.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000464772.1:p.Trp101Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391920" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "hgvs": [ "ENST00000590722.2:c.*325G>A" ], "proteinEffect": { "hgvs": "ENSP00000465737.1:n.*325G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392392" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000591914.5:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000466941.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000466941.1:p.Trp101Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393214" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592186.5:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000468611.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000468611.1:p.Trp101_Leu320delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393389" }, { "coordinates": [ { "allele": "A", "end": 80, "referenceAllele": "G", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592911.5:n.80G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393890" }, { "@id": "http://reg.genome.network/allele/PA259166", "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.5:c.302G>A", "LRG_318t1:c.302G>A" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Trp101Ter", "hgvsWellDefined": "NP_005350.1:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030461" }, { "@id": "http://reg.genome.network/allele/PA259166", "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.6:c.302G>A" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Trp101Ter", "hgvsWellDefined": "NP_005350.1:p.Trp101_Asp552delinsProAspLeuHisLysAsnGluLeuLysHisValLysTyrCysGlnTyrAlaPheAspLeuLysCysAspSerValCysValAsnProTyrHisTyrGluArgValValSerProGlyIleAspLeuSerGlyLeuThrLeuGlnSerAsnAlaProSerSerMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696402", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.302G>A" }, "RefSeq": { "hgvs": "NM_005359.6:c.302G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Trp101Ter" }, "RefSeq": { "hgvs": "NP_005350.1:p.Trp101Ter" } } } } ], "type": "nucleotide" }