{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376546329", "communityStandardTitle": [ "NM_020975.6(RET):c.1001G>A (p.Trp334Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2076977[alleleid]", "alleleId": 2076977, "preferredName": "NM_020975.6(RET):c.1001G>A (p.Trp334Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2024200", "RCV": [ "RCV002863139" ], "variationId": 2024200 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43601957G>A?assembly=hg19", "id": "chr10:g.43601957G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43106509G>A?assembly=hg38", "id": "chr10:g.43106509G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2538404690", "rs": 2538404690 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 43106509, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1001G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1001G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Trp334Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Trp334Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 820, "endIntronDirection": "+", "endIntronOffset": 3880, "referenceAllele": "G", "start": 820, "startIntronDirection": "+", "startIntronOffset": 3879 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.625+3880G>A" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.625+3880G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "A", "end": 263, "endIntronDirection": "-", "endIntronOffset": 4697, "referenceAllele": "G", "start": 263, "startIntronDirection": "-", "startIntronOffset": 4698 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.74-4698G>A" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.74-4698G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1001G>A" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Trp334Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1001G>A" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Trp334Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "A", "end": 258, "endIntronDirection": "-", "endIntronOffset": 5589, "referenceAllele": "G", "start": 258, "startIntronDirection": "-", "startIntronOffset": 5590 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-5590G>A" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-5590G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1001G>A" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:p.Trp334Ter", "hgvsWellDefined": "ENSP00000480088.1:p.Trp334_Ser458delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysLeuAlaAspLeuThrGlyAspAlaValSerGlyArgAspGluAlaArgSerSerGlyLeuGlySerGlnLysHisProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829940347", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1001G>A", "LRG_518t2:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Trp334Ter", "hgvsWellDefined": "NP_065681.1:p.Trp334_Phe1072delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA2829947413", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1001G>A", "LRG_518t1:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Trp334Ter", "hgvsWellDefined": "NP_066124.1:p.Trp334_Ser1114delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1001G>A" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Trp334Ter", "hgvsWellDefined": "XP_011538329.1:p.Trp334_Ser1114delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2580231543", "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.239G>A" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Trp80Ter", "hgvsWellDefined": "NP_001342145.1:p.Trp80_Phe818delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829940347", "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Trp334Ter", "hgvsWellDefined": "NP_065681.1:p.Trp334_Phe1072delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA2829947413", "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "G", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Trp334Ter", "hgvsWellDefined": "NP_066124.1:p.Trp334_Ser1114delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2829947413", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Trp334Ter", "hgvsWellDefined": "NP_066124.1:p.Trp334_Ser1114delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1001G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1001G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Trp334Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Trp334Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829940347", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1001G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Trp334Ter", "hgvsWellDefined": "NP_065681.1:p.Trp334_Phe1072delinsProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }