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"http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "XM_005264516.3:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_005264573.1:p.Glu355Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "XM_011533067.1:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011531369.1:p.Glu356Ter", "hgvsWellDefined": "XP_011531369.1:p.Glu356_Gln551delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgThrLysThrArgThrGlyGluGluTyrValCysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100093" }, { "@id": "http://reg.genome.network/allele/PA2828118961", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "G", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_001363823.1:c.1063G>T" ], "proteinEffect": { "hgvs": "NP_001350752.1:p.Glu355Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_001363875.1:c.967G>T" ], "proteinEffect": { "hgvs": "NP_001350804.1:p.Glu323Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "XM_005264516.5:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_005264573.1:p.Glu355Ter", "hgvsWellDefined": "XP_005264573.1:p.Glu355_Val615delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgMetThrAspGlyTyrSerGlySerAspLeuThrAlaLeuAlaLysAspAlaAlaLeuGlyProIleArgGluLeuLysProGluGlnValLysAsnMetSerAlaSerGluMetArgAsnIleArgLeuSerAspPheThrGluSerLeuLysLysIleLysArgSerValSerProGlnThrLeuGluAlaTyrIleArgTrpAsnLysAspPheGlyAspThrThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535895" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "G", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "XM_011533067.2:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011531369.1:p.Glu356Ter", "hgvsWellDefined": "XP_011531369.1:p.Glu356_Gln551delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgThrLysThrArgThrGlyGluGluTyrValCysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551099" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "XM_017004778.2:c.970G>T" ], "proteinEffect": { "hgvs": "XP_016860267.1:p.Glu324Ter", "hgvsWellDefined": "XP_016860267.1:p.Glu324_Gln519delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgThrLysThrArgThrGlyGluGluTyrValCysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560204" }, { "@id": "http://reg.genome.network/allele/PA2828118961", "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "G", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_001363823.2:c.1063G>T" ], "proteinEffect": { "hgvs": "NP_001350752.1:p.Glu355Ter", "hgvsWellDefined": "NP_001350752.1:p.Glu355_Val615delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgMetThrAspGlyTyrSerGlySerAspLeuThrAlaLeuAlaLysAspAlaAlaLeuGlyProIleArgGluLeuLysProGluGlnValLysAsnMetSerAlaSerGluMetArgAsnIleArgLeuSerAspPheThrGluSerLeuLysLysIleLysArgSerValSerProGlnThrLeuGluAlaTyrIleArgTrpAsnLysAspPheGlyAspThrThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720800" }, { "@id": "http://reg.genome.network/allele/PA2828125132", "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_001363875.2:c.967G>T" ], "proteinEffect": { "hgvs": "NP_001350804.1:p.Glu323Ter", "hgvsWellDefined": "NP_001350804.1:p.Glu323_Val583delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgMetThrAspGlyTyrSerGlySerAspLeuThrAlaLeuAlaLysAspAlaAlaLeuGlyProIleArgGluLeuLysProGluGlnValLysAsnMetSerAlaSerGluMetArgAsnIleArgLeuSerAspPheThrGluSerLeuLysLysIleLysArgSerValSerProGlnThrLeuGluAlaTyrIleArgTrpAsnLysAspPheGlyAspThrThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720806" }, { "@id": "http://reg.genome.network/allele/PA2828733281", "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_001377959.1:c.970G>T" ], "proteinEffect": { "hgvs": "NP_001364888.1:p.Glu324Ter", "hgvsWellDefined": "NP_001364888.1:p.Glu324_Gln519delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgThrLysThrArgThrGlyGluGluTyrValCysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721340" }, { "@id": "http://reg.genome.network/allele/PA2741948909", "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "G", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_014946.4:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_055761.2:p.Glu356Ter", "hgvsWellDefined": "NP_055761.2:p.Glu356_Val616delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgMetThrAspGlyTyrSerGlySerAspLeuThrAlaLeuAlaLysAspAlaAlaLeuGlyProIleArgGluLeuLysProGluGlnValLysAsnMetSerAlaSerGluMetArgAsnIleArgLeuSerAspPheThrGluSerLeuLysLysIleLysArgSerValSerProGlnThrLeuGluAlaTyrIleArgTrpAsnLysAspPheGlyAspThrThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728018", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000315285.9:c.1066G>T" }, "RefSeq": { "hgvs": "NM_014946.4:c.1066G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000320885.3:p.Glu356Ter" }, "RefSeq": { "hgvs": "NP_055761.2:p.Glu356Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830440820", "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN011233", "geneNCBI_id": 6683, "geneSymbol": "SPAST", "hgvs": [ "NM_199436.2:c.970G>T" ], "proteinEffect": { "hgvs": "NP_955468.1:p.Glu324Ter", "hgvsWellDefined": "NP_955468.1:p.Glu324_Val584delinsIleValIleLeuProSerLeuArgProGluLeuPheThrGlyLeuArgAlaProAlaArgGlyLeuLeuLeuPheGlyProProGlyAsnGlyLysThrMetLeuAlaLysAlaValAlaAlaGluSerAsnAlaThrPhePheAsnIleSerAlaAlaSerLeuThrSerLysTyrValGlyGluGlyGluLysLeuValArgAlaLeuPheAlaValAlaArgGluLeuGlnProSerIleIlePheIleAspGluValAspSerLeuLeuCysGluArgArgGluGlyGluHisAspAlaSerArgArgLeuLysThrGluPheLeuIleGluPheAspGlyValGlnSerAlaGlyAspAspArgValLeuValMetGlyAlaThrAsnArgProGlnGluLeuAspGluAlaValLeuArgArgPheIleLysArgValTyrValSerLeuProAsnGluGluThrArgLeuLeuLeuLeuLysAsnLeuLeuCysLysGlnGlySerProLeuThrGlnLysGluLeuAlaGlnLeuAlaArgMetThrAspGlyTyrSerGlySerAspLeuThrAlaLeuAlaLysAspAlaAlaLeuGlyProIleArgGluLeuLysProGluGlnValLysAsnMetSerAlaSerGluMetArgAsnIleArgLeuSerAspPheThrGluSerLeuLysLysIleLysArgSerValSerProGlnThrLeuGluAlaTyrIleArgTrpAsnLysAspPheGlyAspThrThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729993" } ], "type": "nucleotide" }