{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009273", "communityStandardTitle": [ "NM_020975.6(RET):c.538C>T (p.Arg180Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28964[alleleid]", "alleleId": 28964, "preferredName": "NM_020975.6(RET):c.538C>T (p.Arg180Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13925", "RCV": [ "RCV000014950", "RCV001206325", "RCV004528111" ], "variationId": 13925 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43597990C>T?assembly=hg19", "id": "chr10:g.43597990C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43102542C>T?assembly=hg38", "id": "chr10:g.43102542C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/76449634", "rs": 76449634 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 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"transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Arg180Ter", "hgvsWellDefined": "ENSP00000480088.2:p.Arg180_Phe940delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Arg180Ter", "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.538C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.538C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Arg180Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Arg180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000638465.1:c.480C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764541" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000640619.1:c.311C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765584" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:p.Arg180Ter", "hgvsWellDefined": "ENSP00000500541.1:p.Arg180_Glu255delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluAspArgGluSerLeuCysGlyLysLeuProGlyIleGlnTrpHisGlnArgProValGlnAlaAlaPheLeuTrpCysGlnLeuGlnHisAlaArgGlyGlyHisLeuSerArgGlyHisLeuGlyAspProValCysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "T", "end": 263, "endIntronDirection": "-", "endIntronOffset": 8664, "referenceAllele": "C", "start": 263, "startIntronDirection": "-", "startIntronOffset": 8665 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.74-8665C>T" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.74-8665C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Arg180Ter", "hgvsWellDefined": "ENSP00000344798.4:p.Arg180_Phe1072delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Arg180Ter", "hgvsWellDefined": "ENSP00000347942.3:p.Arg180_Ser1114delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "-", "endIntronOffset": 9556, "referenceAllele": "C", "start": 258, "startIntronDirection": "-", "startIntronOffset": 9557 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-9557C>T" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-9557C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:p.Arg180Ter", "hgvsWellDefined": "ENSP00000480088.1:p.Arg180_Ser458delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysLeuAlaAspLeuThrGlyAspAlaValSerGlyArgAspGluAlaArgSerSerGlyLeuGlySerGlnLysHisProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA257044", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.538C>T", "LRG_518t2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg180Ter", "hgvsWellDefined": "NP_065681.1:p.Arg180_Phe1072delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA257045", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.538C>T", "LRG_518t1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg180Ter", "hgvsWellDefined": "NP_066124.1:p.Arg180_Ser1114delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.538C>T" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Arg180Ter", "hgvsWellDefined": "XP_011538329.1:p.Arg180_Ser1114delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA257044", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.538C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg180Ter", "hgvsWellDefined": "NP_065681.1:p.Arg180_Phe1072delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA257045", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.538C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg180Ter", "hgvsWellDefined": "NP_066124.1:p.Arg180_Ser1114delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA257045", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.538C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Arg180Ter", "hgvsWellDefined": "NP_066124.1:p.Arg180_Ser1114delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.538C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.538C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Arg180Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Arg180Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA257044", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.538C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Arg180Ter", "hgvsWellDefined": "NP_065681.1:p.Arg180_Phe1072delinsProProGlyThrPheHisGlnPheArgLeuLeuProValGlnPheLeuCysProAsnIleSerValAlaTyrArgLeuLeuGluGlyGluGlyLeuProPheArgCysAlaProAspSerLeuGluValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }