{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA246684171", "communityStandardTitle": [ "NM_014363.6(SACS):c.434C>G (p.Ser145Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=641627[alleleid]", "alleleId": 641627, "preferredName": "NM_014363.6(SACS):c.434C>G (p.Ser145Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/661678", "RCV": [ "RCV000819151", "RCV000992789", "RCV001785730", "RCV003396439" ], "variationId": 661678 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23939328G>C?assembly=hg19", "id": "chr13:g.23939328G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.23365189G>C?assembly=hg38", "id": "chr13:g.23365189G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/994374354", "rs": 994374354 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-23939328-G-C?dataset=gnomad_r2_1", "id": "13-23939328-G-C", "variant": "13:23939328 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-23365189-G-C?dataset=gnomad_r3", "id": "13-23365189-G-C", "variant": "13:23365189 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-23365189-G-C?dataset=gnomad_r4", "id": "13-23365189-G-C", "variant": "13:23365189 G / C" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "C", "end": 23365189, "referenceAllele": "G", "start": 23365188 } ], "hgvs": [ "NC_000013.11:g.23365189G>C", "CM000675.2:g.23365189G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "C", "end": 23939328, "referenceAllele": "G", "start": 23939327 } ], "hgvs": [ "NC_000013.10:g.23939328G>C", "CM000675.1:g.23939328G>C" ], "referenceGenome": "GRCh37", 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"geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000682354.1:n.1199C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827346" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000682775.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000508399.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000508399.1:p.Ser145_Ser739delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyThrTrpIleThrTrpSerGlnArgArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827764" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000682944.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000507173.1:p.Ser145Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827932" }, { "coordinates": [ { "allele": "G", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683154.1:n.572C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828139" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683210.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000506739.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000506739.1:p.Ser145_Arg738delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGluIleProTrpThrAlaAlaArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828192" }, { "coordinates": [ { "allele": "G", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683270.1:c.425C>G" ], "proteinEffect": { "hgvs": "ENSP00000507624.1:p.Ser142Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828251" }, { "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683367.1:c.425C>G" ], "proteinEffect": { "hgvs": "ENSP00000507780.1:p.Ser142Ter", "hgvsWellDefined": "ENSP00000507780.1:p.Ser142_Cys747delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828347" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683489.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000508403.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000508403.1:p.Ser145_Gln763delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828463" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000683680.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000507223.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000507223.1:p.Ser145_Gln772delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGlnGlnGlnLeuTrpGlyTyrSerGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828651" }, { "coordinates": [ { "allele": "G", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684053.1:n.551C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829012" }, { "coordinates": [ { "allele": "G", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684163.1:c.425C>G" ], "proteinEffect": { "hgvs": "ENSP00000508262.1:p.Ser142Ter", "hgvsWellDefined": "ENSP00000508262.1:p.Ser142_Cys756delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaGlnGlnGlnLeuTrpGlyTyrSerGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829121" }, { "coordinates": [ { "allele": "G", "end": 2791, "referenceAllele": "C", "start": 2790 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684196.1:n.2791C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829154" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684325.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000508121.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000508121.1:p.Ser145_Ala729delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829280" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684385.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000507855.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000507855.1:p.Ser145_Phe830delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyIleIleHisAsnAsnAsnSerGlyAspIleGlnAlaSerCysLeuMetLysIleAlaThrGluAsnSerLysTrpTrpGlnPheLeuLeuProValValSerIleValSerGlyAsnCysLeuProArgGlnHisLeuLeuThrValArgThrLeuAlaLeuCysLeuCysValHisIlePheHisLysCysTyrAsnLeuTyrSerValValGluGlnAspAlaIlePheCysCysLeuLysValLeuGlnLeuLysLysLysGlnProPheLeuSerIleTrpHisValValGluPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829340" }, { "coordinates": [ { "allele": "G", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000684497.1:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000507057.1:p.Ser145Ter", "hgvsWellDefined": "ENSP00000507057.1:p.Ser145_Thr738delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgAlaHisSerProGlyValTrpArgCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829451" }, { "coordinates": [ { "allele": "G", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382292.9:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000371729.3:p.Ser145Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752641", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.434C>G" }, "RefSeq": { "hgvs": "NM_014363.6:c.434C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Ser145Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Ser145Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.2:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000390925.2:p.Ser145Ter", "hgvsWellDefined": "ENSP00000390925.2:p.Ser145_Cys750delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754964" }, { "coordinates": [ { "allele": "G", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.6:c.434C>G" ], "proteinEffect": { "hgvs": "ENSP00000406565.2:p.Ser145Ter", "hgvsWellDefined": "ENSP00000406565.2:p.Ser145_Cys832delinsLysAspMetAlaProTyrGlnGlyProAlaLeuTyrValTyrAsnAsnAlaValPheThrProGluAspTrpHisGlyIleGlnGluIleAlaArgSerArgLysLysAspAspProLeuLysValGlyArgPheGlyIleGlyPheAsnSerValTyrHisIleThrAspValProCysIlePheSerGlyAspGlnIleGlyMetLeuAspProHisGlnThrLeuPheGlyProHisGluSerGlyGlnCysTrpAsnLeuLysAspAspSerLysGluIleSerGluLeuSerAspGlnPheAlaProPheValGlyIlePheGlySerThrLysGluThrPheIleAsnGlyAsnPheProGlyThrPhePheArgPheProLeuArgLeuGlnProSerGlnLeuSerSerAsnLeuTyrAsnLysGlnLysValLeuGluLeuPheGluSerPheArgAlaAspAlaAspThrValLeuLeuPheLeuLysSerValGlnAspValSerLeuTyrValArgGluAlaAspGlyThrGluLysLeuValPheArgValThrSerSerGluSerLysAlaLeuLysHisGluArgProAsnSerIleLysIleLeuGlyThrAlaIleSerAsnTyrCysLysLysThrProSerAsnAsnIleThrCysValThrTyrHisValAsnIleValLeuGluGluGluSerThrLysAspAlaGlnLysThrSerTrpLeuValCysAsnSerValGlyGlyArgGlyIleSerSerLysLeuAspSerLeuAlaAspGluLeuLysPheValProIleIleGlyIleAlaMetProLeuSerSerArgAspAspGluAlaLysGlyAlaThrSerAspPheSerGlyLysAlaPheCysPheLeuProLeuProProGlyGluGluSerSerThrGlyLeuProValHisIleSerGlyPhePheGlyLeuThrAspAsnArgArgSerIleLysTrpArgGluLeuAspGlnTrpArgAspProAlaAlaLeuTrpAsnGluPheLeuValMetAsnValValProLysAlaTyrAlaThrLeuIleLeuAspSerIleLysArgLeuGluMetGluLysSerSerAspPheProLeuSerValAspValIleTyrLysLeuTrpProGluAlaSerLysValLysValHisTrpGlnProValLeuGluProLeuPheSerGluLeuLeuGlnAsnAlaValIleTyrSerIleSerCysAspTrpValArgLeuGluGlnValTyrPheSerGluLeuAspGluAsnLeuGluTyrThrLysThrValLeuAsnTyrLeuGlnSerSerGlyLysGlnIleAlaLysValProGlyAsnValAspAlaAlaValGlnLeuThrAlaAlaSerGlyThrThrProValArgLysValThrProAlaTrpValArgGlnValLeuArgLysCysAlaHisLeuGlyCysAlaGluGluLysLeuHisLeuLeuGluPheValLeuSerAspGlnAlaTyrSerGluLeuLeuGlyLeuGluLeuLeuProLeuGlnAsnGlyAsnPheValProPheSerSerSerValSerAspGlnAspValIleTyrIleThrSerAlaGluTyrProArgSerLeuPheProSerLeuGluGlyArgPheIleLeuAspAsnLeuLysProHisLeuValAlaAlaLeuLysGluAlaAlaGlnThrArgGlyArgProCysThrGlnLeuGlnLeuLeuAsnProGluArgPheAlaArgLeuIleLysGluValMetAsnThrPheTrpProGlyArgGluLeuIleValGlnTrpTyrProPheAspGluAsnArgAsnHisProSerValSerTrpLeuLysMetValTrpLysAsnLeuTyrIleHisPheSerGluAspLeuThrLeuPheAspGluMetProLeuIleProArgThrIleLeuGluGluGlyPheLeuPheAspGluAspSerAsnGlyLysLeuLysMetValAlaValLeuIleThrSerCysTer" 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