{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376548067", "communityStandardTitle": [ "NM_020975.6(RET):c.1252C>T (p.Arg418Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=918110", "active": true, "id": "COSM918110" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1584960", "active": true, "id": "COSM1584960" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1470535[alleleid]", "alleleId": 1470535, "preferredName": "NM_020975.6(RET):c.1252C>T (p.Arg418Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1403312", "RCV": [ "RCV001908987", "RCV004542167" ], "variationId": 1403312 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43604667C>T?assembly=hg19", "id": "chr10:g.43604667C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43109219C>T?assembly=hg38", "id": "chr10:g.43109219C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2132747295", "rs": 2132747295 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43109219, "referenceAllele": "C", "start": 43109218 } ], "hgvs": [ "NC_000010.11:g.43109219C>T", "CM000672.2:g.43109219C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43604667, "referenceAllele": "C", "start": 43604666 } ], "hgvs": [ "NC_000010.10:g.43604667C>T", "CM000672.1:g.43604667C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 42924673, "referenceAllele": "C", "start": 42924672 } ], "hgvs": [ "NC_000010.9:g.42924673C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 37151, "referenceAllele": "C", "start": 37150 } ], "hgvs": [ "NG_007489.1:g.37151C>T", "LRG_518:g.37151C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1040, "endIntronDirection": "-", "endIntronOffset": 1987, "referenceAllele": "C", "start": 1040, "startIntronDirection": "-", "startIntronOffset": 1988 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.868-1988C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:n.868-1988C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.826C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "T", "end": 13, "referenceAllele": "C", "start": 12 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.13C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Arg418Ter", "hgvsWellDefined": "ENSP00000344798.4:p.Arg418_Phe1072delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Arg418Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1252C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.1252C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Arg418Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Arg418Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 820, "endIntronDirection": "-", "endIntronOffset": 1987, "referenceAllele": "C", "start": 820, "startIntronDirection": "-", "startIntronOffset": 1988 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.626-1988C>T" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.626-1988C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "T", "end": 263, "endIntronDirection": "-", "endIntronOffset": 1987, "referenceAllele": "C", "start": 263, "startIntronDirection": "-", "startIntronOffset": 1988 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.74-1988C>T" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.74-1988C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Arg418Ter", "hgvsWellDefined": "ENSP00000344798.4:p.Arg418_Phe1072delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Arg418Ter", "hgvsWellDefined": "ENSP00000347942.3:p.Arg418_Ser1114delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "-", "endIntronOffset": 2879, "referenceAllele": "C", "start": 258, "startIntronDirection": "-", "startIntronOffset": 2880 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-2880C>T" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-2880C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:p.Arg418Ter", "hgvsWellDefined": "ENSP00000480088.1:p.Arg418_Ser458delinsPheAlaGlnIleGlyLysValCysValGluAsnCysLeuAlaAspLeuThrGlyAspAlaValSerGlyArgAspGluAlaArgSerSerGlyLeuGlySerGlnLysHisProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829940646", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1252C>T", "LRG_518t2:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg418Ter", "hgvsWellDefined": "NP_065681.1:p.Arg418_Phe1072delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA2573281968", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1252C>T", "LRG_518t1:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg418Ter", "hgvsWellDefined": "NP_066124.1:p.Arg418_Ser1114delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1252C>T" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Arg418Ter", "hgvsWellDefined": "XP_011538329.1:p.Arg418_Ser1114delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828046577", "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Arg164Ter", "hgvsWellDefined": "NP_001342145.1:p.Arg164_Phe818delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829940646", "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg418Ter", "hgvsWellDefined": "NP_065681.1:p.Arg418_Phe1072delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA2573281968", "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg418Ter", "hgvsWellDefined": "NP_066124.1:p.Arg418_Ser1114delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2573281968", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg418Ter", "hgvsWellDefined": "NP_066124.1:p.Arg418_Ser1114delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1252C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.1252C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Arg418Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Arg418Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829940646", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg418Ter", "hgvsWellDefined": "NP_065681.1:p.Arg418_Phe1072delinsPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }