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"referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374313.2:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001361242.1:p.Gln338Ter", "hgvsWellDefined": "NP_001361242.1:p.Gln338_Arg577delinsLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693220" }, { "@id": "http://reg.genome.network/allele/PA2828501560", "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374314.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001361243.1:p.Gln338Ter", "hgvsWellDefined": "NP_001361243.1:p.Gln338_Ser574delinsLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693221" }, { "@id": "http://reg.genome.network/allele/PA2828502094", "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374315.2:c.904C>T" ], "proteinEffect": { "hgvs": "NP_001361244.1:p.Gln302Ter", "hgvsWellDefined": "NP_001361244.1:p.Gln302_Glu567delinsLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693222" }, { "@id": "http://reg.genome.network/allele/PA645402105", "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.6:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Gln338Ter", "hgvsWellDefined": "NP_003156.1:p.Gln338_Glu603delinsLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.1012C>T" }, "RefSeq": { "hgvs": "NM_003165.6:c.1012C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Gln338Ter" }, "RefSeq": { "hgvs": "NP_003156.1:p.Gln338Ter" } } } } ], "type": "nucleotide" }