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}, "referenceSequence": "http://reg.genome.network/refseq/RS273693" }, { "coordinates": [ { "allele": "A", "end": 12762, "referenceAllele": "C", "start": 12761 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382298.7:c.12147C>A" ], "proteinEffect": { "hgvs": "ENSP00000371735.3:p.Cys4049Ter", "hgvsWellDefined": "ENSP00000371735.3:p.Cys4049_Val4579delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "A", "end": 12231, "referenceAllele": "C", "start": 12230 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.9897C>A" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:p.Cys3299Ter", "hgvsWellDefined": "ENSP00000385844.1:p.Cys3299_Val3829delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "A", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 2244, "referenceAllele": "C", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 2245 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-2245C>A" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-2245C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "A", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 2244, "referenceAllele": "C", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 2245 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-2245C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578649", "coordinates": [ { "allele": "A", "end": 12231, "referenceAllele": "C", "start": 12230 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.11706C>A" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Cys3902Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA2741945402", "coordinates": [ { "allele": "A", "end": 12762, "referenceAllele": "C", "start": 12761 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.12147C>A" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Cys4049Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "A", "end": 12789, "referenceAllele": "C", "start": 12788 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.12174C>A" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Cys4058Ter", "hgvsWellDefined": "XP_005266395.1:p.Cys4058_Val4588delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "A", "end": 12216, "referenceAllele": "C", "start": 12215 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.12198C>A" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Cys4066Ter", "hgvsWellDefined": "XP_011533340.1:p.Cys4066_Val4596delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "A", "end": 12286, "referenceAllele": "C", "start": 12285 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.12165C>A" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Cys4055Ter", "hgvsWellDefined": "XP_011533341.1:p.Cys4055_Val4585delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "A", "end": 12789, "referenceAllele": "C", "start": 12788 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.12174C>A" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Cys4058Ter", "hgvsWellDefined": "XP_005266395.1:p.Cys4058_Val4588delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "A", "end": 12397, "referenceAllele": "C", "start": 12396 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.12165C>A" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Cys4055Ter", "hgvsWellDefined": "XP_011533341.1:p.Cys4055_Val4585delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "A", "end": 12370, "referenceAllele": "C", "start": 12369 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.12138C>A" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Cys4046Ter", "hgvsWellDefined": "XP_016876028.1:p.Cys4046_Val4576delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "A", "end": 12813, "referenceAllele": "C", "start": 12812 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.12174C>A" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Cys4058Ter", "hgvsWellDefined": "XP_024305105.1:p.Cys4058_Val4588delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA2741945402", "coordinates": [ { "allele": "A", "end": 12736, "referenceAllele": "C", "start": 12735 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.12147C>A" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Cys4049Ter", "hgvsWellDefined": "NP_055178.3:p.Cys4049_Val4579delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.12147C>A" }, "RefSeq": { "hgvs": "NM_014363.6:c.12147C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Cys4049Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Cys4049Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578649", "coordinates": [ { "allele": "A", "end": 12196, "referenceAllele": "C", "start": 12195 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.11706C>A" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Cys3902Ter", "hgvsWellDefined": "NP_001264984.1:p.Cys3902_Val4432delinsPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }