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"NP_001361241.1:p.Gln322_Ser580delinsTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693219" }, { "@id": "http://reg.genome.network/allele/PA2828500980", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374313.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001361242.1:p.Gln336Ter", "hgvsWellDefined": "NP_001361242.1:p.Gln336_Arg577delinsTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693220" }, { "@id": "http://reg.genome.network/allele/PA2828501557", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374314.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001361243.1:p.Gln336Ter", "hgvsWellDefined": "NP_001361243.1:p.Gln336_Ser574delinsTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693221" }, { "@id": "http://reg.genome.network/allele/PA2828502091", "coordinates": [ { "allele": "T", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374315.2:c.898C>T" ], "proteinEffect": { "hgvs": "NP_001361244.1:p.Gln300Ter", "hgvsWellDefined": "NP_001361244.1:p.Gln300_Glu567delinsTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693222" }, { "@id": "http://reg.genome.network/allele/PA645402104", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.6:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Gln336Ter", "hgvsWellDefined": "NP_003156.1:p.Gln336_Glu603delinsTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.1006C>T" }, "RefSeq": { "hgvs": "NM_003165.6:c.1006C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Gln336Ter" }, "RefSeq": { "hgvs": "NP_003156.1:p.Gln336Ter" } } } } ], "type": "nucleotide" }