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"XP_011516708.1:p.Arg1606_Glu2413delinsIleAlaGlyLeuSerLysSerLeuGluThrSerSerAlaLeuSerProSerLeuLysAsnLysSerLysGlyIleGlnSerIleLeuLysValProGlnProValProLeuIleAlaGlnLysProValGlyGluMetLysAsnSerCysAsnValLeuHisProGlnSerProAsnAsnSerAsnArgGlnGlyCysLysValProPheGlyGluSerLysTyrPheProSerSerSerProValAsnIleLeuLeuSerSerGlnSerValSerAspThrPheValLysGluValLeuLysTrpLysTyrGluMetPheLeuAsnPheGlyGlnCysGlyProProAlaSerLeuCysGlnSerIleSerArgProValProValArgPheHisAsnTyrGlyAspTyrPheAsnValPhePheProLeuMetValLeuAsnThrPheGluThrValAlaGlnGluTrpLeuAsnSerProAsnArgGluAsnPheTyrGlnLeuGlnValArgLysPheProAlaAspTyrIleLysTyrTrpGluPheAlaValTyrLeuGluGluCysGluLeuAlaLysGlnLeuTyrProLysGluAsnAspLeuValPheLeuAlaProGluArgIleAsnGluGluLysLysAspThrGluArgAsnAspIleGlnAspLeuHisGluTyrHisSerGlyTyrValHisLysPheArgArgThrSerValMetArgAsnGlyLysThrGluCysTyrLeuSerIleGlnThrGlnGluAsnPheProAlaAsnLeuAsnGluLeuValAsnCysIleValIleSerSerLeuValThrThrGlnArgLysLeuLysAlaMetSerLeuLeuGlySerArgAsnGlnLeuAlaArgAlaValLeuAsnProAsnProMetAspPheCysThrLysAspLeuLeuThrThrThrSerGluArgIleIleAlaTyrLeuArgAspPheAsnGluAspGlnLysLysAlaIleGluThrAlaTyrAlaMetValLysHisSerProSerValAlaLysIleCysLeuIleHisGlyProProGlyThrGlyLysSerLysThrIleValGlyLeuLeuTyrArgLeuLeuThrGluAsnGlnArgLysGlyHisSerAspGluAsnSerAsnAlaLysIleLysGlnAsnArgValLeuValCysAlaProSerAsnAlaAlaValAspGluLeuMetLysLysIleIleLeuGluPheLysGluLysCysLysAspLysLysAsnProLeuGlyAsnCysGlyAspIleAsnLeuValArgLeuGlyProGluLysSerIleAsnSerGluValLeuLysPheSerLeuAspSerGlnValAsnHisArgMetLysLysGluLeuProSerHisValGlnAlaMetHisLysArgLysGluPheLeuAspTyrGlnLeuAspGluLeuSerArgGlnArgAlaLeuCysArgGlyGlyArgGluIleGlnArgGlnGluLeuAspGluAsnIleSerLysValSerLysGluArgGlnGluLeuAlaSerLysIleLysGluValGlnGlyArgProGlnLysThrGlnSerIleIleIleLeuGluSerHisIleIleCysCysThrLeuSerThrSerGlyGlyLeuLeuLeuGluSerAlaPheArgGlyGlnGlyGlyValProPheSerCysValIleValAspGluAlaGlyGlnSerCysGluIleGluThrLeuThrProLeuIleHisArgCysAsnLysLeuIleLeuValGlyAspProLysGlnLeuProProThrValIleSerMetLysAlaGlnGluTyrGlyTyrAspGlnSerMetMetAlaArgPheCysArgLeuLeuGluGluAsnValGluHisAsnMetIleSerArgLeuProIleLeuGlnLeuThrValGlnTyrArgMetHisProAspIleCysLeuPheProSerAsnTyrValTyrAsnArgAsnLeuLysThrAsnArgGlnThrGluAlaIleArgCysSerSerAspTrpProPheGlnProTyrLeuValPheAspValGlyAspGlySerGluArgArgAspAsnAspSerTyrIleAsnValGlnGluIleLysLeuValMetGluIleIleLysLeuIleLysAspLysArgLysAspValSerPheArgAsnIleGlyIleIleThrHisTyrLysAlaGlnLysThrMetIleGlnLysAspLeuAspLysGluPheAspArgLysGlyProAlaGluValAspThrValAspAlaPheGlnGlyArgGlnLysAspCysValIleValThrCysValArgAlaAsnSerIleGlnGlySerIleGlyAsnSerSerValProGlyThrLeuTyrTrpAspGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544907" }, { "coordinates": [ { "allele": "T", "end": 5000, "referenceAllele": "C", "start": 4999 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "XM_011518408.3:c.4816C>T" ], "proteinEffect": { "hgvs": "XP_011516710.1:p.Arg1606Ter", "hgvsWellDefined": "XP_011516710.1:p.Arg1606_Leu2191delinsIleAlaGlyLeuSerLysSerLeuGluThrSerSerAlaLeuSerProSerLeuLysAsnLysSerLysGlyIleGlnSerIleLeuLysValProGlnProValProLeuIleAlaGlnLysProValGlyGluMetLysAsnSerCysAsnValLeuHisProGlnSerProAsnAsnSerAsnArgGlnGlyCysLysValProPheGlyGluSerLysTyrPheProSerSerSerProValAsnIleLeuLeuSerSerGlnSerValSerAspThrPheValLysGluValLeuLysTrpLysTyrGluMetPheLeuAsnPheGlyGlnCysGlyProProAlaSerLeuCysGlnSerIleSerArgProValProValArgPheHisAsnTyrGlyAspTyrPheAsnValPhePheProLeuMetValLeuAsnThrPheGluThrValAlaGlnGluTrpLeuAsnSerProAsnArgGluAsnPheTyrGlnLeuGlnValArgLysPheProAlaAspTyrIleLysTyrTrpGluPheAlaValTyrLeuGluGluCysGluLeuAlaLysGlnLeuTyrProLysGluAsnAspLeuValPheLeuAlaProGluArgIleAsnGluGluLysLysAspThrGluArgAsnAspIleGlnAspLeuHisGluTyrHisSerGlyTyrValHisLysPheArgArgThrSerValMetArgAsnGlyLysThrGluCysTyrLeuSerIleGlnThrGlnGluAsnPheProAlaAsnLeuAsnGluLeuValAsnCysIleValIleSerSerLeuValThrThrGlnArgLysLeuLysAlaMetSerLeuLeuGlySerArgAsnGlnLeuAlaArgAlaValLeuAsnProAsnProMetAspPheCysThrLysAspLeuLeuThrThrThrSerGluArgIleIleAlaTyrLeuArgAspPheAsnGluAspGlnLysLysAlaIleGluThrAlaTyrAlaMetValLysHisSerProSerValAlaLysIleCysLeuIleHisGlyProProGlyThrGlyLysSerLysThrIleValGlyLeuLeuTyrArgLeuLeuThrGluAsnGlnArgLysGlyHisSerAspGluAsnSerAsnAlaLysIleLysGlnAsnArgValLeuValCysAlaProSerAsnAlaAlaValAspGluLeuMetLysLysIleIleLeuGluPheLysGluLysCysLysAspLysLysAsnProLeuGlyAsnCysGlyAspIleAsnLeuValArgLeuGlyProGluLysSerIleAsnSerGluValLeuLysPheSerLeuAspSerGlnValAsnHisArgMetLysLysGluLeuProSerHisValGlnAlaMetHisLysArgLysGluPheLeuAspTyrGlnLeuAspGluLeuSerArgGlnArgAlaLeuCysArgGlyGlyArgGluIleGlnArgGlnGluLeuAspGluAsnIleSerLysValSerLysGluArgGlnGluLeuAlaSerLysIleLysGluValGlnGlyArgProGlnLysThrGlnSerIleIleIleLeuGluSerHisIleIleCysCysThrLeuSerThrSerGlyGlyLeuLeuLeuGluSerAlaPheArgGlyGlnGlyGlyValProPheSerCysValIleValAspGluValSerGluArgSerAlaIleGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544908" }, { "coordinates": [ { "allele": "T", "end": 125, "endIntronDirection": "+", "endIntronOffset": 171, "referenceAllele": "C", "start": 125, "startIntronDirection": "+", "startIntronOffset": 170 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "XM_017014496.1:c.-274+171C>T" ], "proteinEffect": { "hgvs": "XP_016869985.1:n.-274+171C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567453" }, { "coordinates": [ { "allele": "T", "end": 4829, "endIntronDirection": "+", "endIntronOffset": 171, "referenceAllele": "C", "start": 4829, "startIntronDirection": "+", "startIntronOffset": 170 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "XR_001746251.1:n.4829+171C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594602" }, { "coordinates": [ { "allele": "T", "end": 5000, "referenceAllele": "C", "start": 4999 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "XR_929739.2:n.5000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609274" }, { "coordinates": [ { "allele": "T", "end": 5000, "referenceAllele": "C", "start": 4999 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "NM_015046.7:c.4816C>T" ], "proteinEffect": { "hgvs": "NP_055861.3:p.Arg1606Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS668612", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224140.6:c.4816C>T" }, "RefSeq": { "hgvs": "NM_015046.7:c.4816C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224140.5:p.Arg1606Ter" }, "RefSeq": { "hgvs": "NP_055861.3:p.Arg1606Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5000, "referenceAllele": "C", "start": 4999 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "NM_001351528.2:c.4816C>T" ], "proteinEffect": { "hgvs": "NP_001338457.1:p.Arg1606Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS688870" }, { "coordinates": [ { "allele": "T", "end": 5136, "referenceAllele": "C", "start": 5135 } ], "gene": "http://reg.genome.network/gene/GN000445", "geneNCBI_id": 23064, "geneSymbol": "SETX", "hgvs": [ "NM_001351527.2:c.4816C>T" ], "proteinEffect": { "hgvs": "NP_001338456.1:p.Arg1606Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS719848" } ], "type": "nucleotide" }