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"ENSP00000385844.1:p.Gln3304_Val3829delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 2231, "referenceAllele": "C", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 2232 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-2232C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-2232C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 2231, "referenceAllele": "C", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 2232 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-2232C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578652", "coordinates": [ { "allele": "T", "end": 12244, "referenceAllele": "C", "start": 12243 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.11719C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3907Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA343114", "coordinates": [ { "allele": "T", "end": 12775, "referenceAllele": "C", "start": 12774 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.12160C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln4054Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 12802, "referenceAllele": "C", "start": 12801 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.12187C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln4063Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 12229, "referenceAllele": "C", "start": 12228 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.12211C>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Gln4071Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 12299, "referenceAllele": "C", "start": 12298 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.12178C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln4060Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 12802, "referenceAllele": "C", "start": 12801 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.12187C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln4063Ter", "hgvsWellDefined": "XP_005266395.1:p.Gln4063_Val4588delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 12410, "referenceAllele": "C", "start": 12409 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.12178C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln4060Ter", "hgvsWellDefined": "XP_011533341.1:p.Gln4060_Val4585delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 12383, "referenceAllele": "C", "start": 12382 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.12151C>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Gln4051Ter", "hgvsWellDefined": "XP_016876028.1:p.Gln4051_Val4576delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 12826, "referenceAllele": "C", "start": 12825 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.12187C>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Gln4063Ter", "hgvsWellDefined": "XP_024305105.1:p.Gln4063_Val4588delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA343114", "coordinates": [ { "allele": "T", "end": 12749, "referenceAllele": "C", "start": 12748 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.12160C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln4054Ter", "hgvsWellDefined": "NP_055178.3:p.Gln4054_Val4579delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.12160C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.12160C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Gln4054Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Gln4054Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578652", "coordinates": [ { "allele": "T", "end": 12209, "referenceAllele": "C", "start": 12208 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.11719C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3907Ter", "hgvsWellDefined": "NP_001264984.1:p.Gln3907_Val4432delinsThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }