{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375176207", "communityStandardTitle": [ "NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2410574[alleleid]", "alleleId": 2410574, "preferredName": "NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2434011", "RCV": [ "RCV003132817" ], "variationId": 2434011 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.130416013T>A?assembly=hg19", "id": "chr9:g.130416013T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.127653734T>A?assembly=hg38", "id": "chr9:g.127653734T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307900", "rs": 1085307900 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 127653734, "referenceAllele": "T", "start": 127653733 } ], "hgvs": [ "NC_000009.12:g.127653734T>A", "CM000671.2:g.127653734T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 130416013, "referenceAllele": "T", "start": 130416012 } ], "hgvs": [ "NC_000009.11:g.130416013T>A", "CM000671.1:g.130416013T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 129455834, "referenceAllele": "T", "start": 129455833 } ], "hgvs": [ "NC_000009.10:g.129455834T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 46528, "referenceAllele": "T", "start": 46527 } ], "hgvs": [ "NG_016623.1:g.46528T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003236" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000704680.1:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000515991.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000515991.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912400" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "T", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000704681.1:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000515992.1:p.Leu36Ter", "hgvsWellDefined": "ENSP00000515992.1:p.Leu36_Thr404delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnAlaSerArgArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912401" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373299.5:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000362396.2:p.Leu36Ter", "hgvsWellDefined": "ENSP00000362396.2:p.Leu36_Ser594delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751202", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373299.5:c.107T>A" }, "RefSeq": { "hgvs": "NM_001032221.6:c.107T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362396.2:p.Leu36Ter" }, "RefSeq": { "hgvs": "NP_001027392.1:p.Leu36Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373302.8:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000362399.3:p.Leu36Ter", "hgvsWellDefined": "ENSP00000362399.3:p.Leu36_Glu603delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.107T>A" }, "RefSeq": { "hgvs": "NM_003165.6:c.107T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Leu36Ter" }, "RefSeq": { "hgvs": "NP_003156.1:p.Leu36Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 284, "referenceAllele": "T", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000626539.3:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000487211.2:p.Leu22Ter", "hgvsWellDefined": "ENSP00000487211.2:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762476" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000635950.2:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000490903.1:p.Leu36Ter", "hgvsWellDefined": "ENSP00000490903.1:p.Leu36_Ser574delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762760" }, { "coordinates": [ { "allele": "A", "end": 313, "referenceAllele": "T", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000636509.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000490810.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000490810.1:p.Leu22_Lys360delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAsnHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763169" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000636962.2:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000489762.1:p.Leu36Ter", "hgvsWellDefined": "ENSP00000489762.1:p.Leu36_Ser574delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763509" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "T", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637060.2:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000490674.2:p.Leu36Ter", "hgvsWellDefined": "ENSP00000490674.2:p.Leu36_Trp126delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrArgAlaGlyLeuLeuAspHisMetLeuTrpLysIleSerIleSerAlaGluSerArgSerProAlaTrpArgLeuCysIleSerSerLeuHisProArgSerProSerThrLeuSerSerValThrLeuArgThrArgArgLeuLeuAsnThrGlyLeuHisThrSerSerSerLeuThrLeuValGlnMetProCysLeuMetAsnTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763580" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "T", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637173.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000490519.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000490519.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763665" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "T", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637464.2:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000489655.2:p.Leu36Ter", "hgvsWellDefined": "ENSP00000489655.2:p.Leu36_Ser69delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrAsnSerSerSerAsnLeuCysAlaLysThrArgSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763879" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637521.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000489791.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000489791.1:p.Leu22_Glu589delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763917" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637953.1:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000490613.1:p.Leu36Ter", "hgvsWellDefined": "ENSP00000490613.1:p.Leu36_Arg577delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764235" }, { "coordinates": [ { "allele": "A", "end": 49, "referenceAllele": "T", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000647107.1:c.49T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769236" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "T", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000650920.1:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000498834.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000498834.1:p.Leu22_Glu589delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771384" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "T", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373299.4:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000362396.1:p.Leu36Ter", "hgvsWellDefined": "ENSP00000362396.1:p.Leu36_Ser594delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269616" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "T", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373302.7:c.107T>A" ], "proteinEffect": { "hgvs": "ENSP00000362399.3:p.Leu36Ter", "hgvsWellDefined": "ENSP00000362399.3:p.Leu36_Glu603delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269617" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "T", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000625363.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000486944.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000486944.1:p.Leu22Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS406573" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "T", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000626333.1:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000486814.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000486814.1:p.Leu22_Lys147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406723" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "T", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000626539.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000487211.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000487211.1:p.Leu22_Tyr143del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406753" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "T", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000627871.2:c.-5T>A" ], "proteinEffect": { "hgvs": "ENSP00000485895.1:n.-5T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS406967" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "T", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000630492.2:c.65T>A" ], "proteinEffect": { "hgvs": "ENSP00000485680.1:p.Leu22Ter", "hgvsWellDefined": "ENSP00000485680.1:p.Leu22Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407374" }, { "@id": "http://reg.genome.network/allele/PA2825359369", "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "T", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001032221.3:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001027392.1:p.Leu36Ter", "hgvsWellDefined": "NP_001027392.1:p.Leu36_Ser594delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009051" }, { "@id": "http://reg.genome.network/allele/PA645401755", "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "T", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.3:c.107T>A" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Leu36Ter", "hgvsWellDefined": "NP_003156.1:p.Leu36_Glu603delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028433" }, { "@id": "http://reg.genome.network/allele/PA2825359369", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001032221.6:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001027392.1:p.Leu36Ter", "hgvsWellDefined": "NP_001027392.1:p.Leu36_Ser594delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373299.5:c.107T>A" }, "RefSeq": { "hgvs": "NM_001032221.6:c.107T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362396.2:p.Leu36Ter" }, "RefSeq": { "hgvs": "NP_001027392.1:p.Leu36Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828496685", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374306.2:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001361235.1:p.Leu36Ter", "hgvsWellDefined": "NP_001361235.1:p.Leu36_Ser591delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspTyrAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693213" }, { "@id": "http://reg.genome.network/allele/PA2828497251", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "T", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374307.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361236.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361236.1:p.Leu22_Glu589delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693214" }, { "@id": "http://reg.genome.network/allele/PA2828497832", "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "T", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374308.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361237.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361237.1:p.Leu22_Glu589delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693215" }, { "@id": "http://reg.genome.network/allele/PA2828498413", "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "T", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374309.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361238.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361238.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693216" }, { "@id": "http://reg.genome.network/allele/PA2828498981", "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "T", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374310.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361239.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361239.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693217" }, { "@id": "http://reg.genome.network/allele/PA2828499549", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "T", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374311.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361240.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361240.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693218" }, { "@id": "http://reg.genome.network/allele/PA2828500109", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "T", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374312.2:c.65T>A" ], "proteinEffect": { "hgvs": "NP_001361241.1:p.Leu22Ter", "hgvsWellDefined": "NP_001361241.1:p.Leu22_Ser580delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693219" }, { "@id": "http://reg.genome.network/allele/PA2828500681", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374313.2:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001361242.1:p.Leu36Ter", "hgvsWellDefined": "NP_001361242.1:p.Leu36_Arg577delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693220" }, { "@id": "http://reg.genome.network/allele/PA2828501258", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374314.1:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001361243.1:p.Leu36Ter", "hgvsWellDefined": "NP_001361243.1:p.Leu36_Ser574delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693221" }, { "@id": "http://reg.genome.network/allele/PA2828501836", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374315.2:c.107T>A" ], "proteinEffect": { "hgvs": "NP_001361244.1:p.Leu36Ter", "hgvsWellDefined": "NP_001361244.1:p.Leu36_Glu567delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693222" }, { "@id": "http://reg.genome.network/allele/PA645401755", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.6:c.107T>A" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Leu36Ter", "hgvsWellDefined": "NP_003156.1:p.Leu36_Glu603delinsSerMetArgMetLeuSerSerCysCysLysMetThrAspIleMetThrGluGlyIleThrIleValGluAspIleAsnLysArgArgGluProLeuProSerLeuGluAlaValTyrLeuIleThrProSerGluLysSerValHisSerLeuIleSerAspPheLysAspProProThrAlaLysTyrArgAlaAlaHisValPhePheThrAspSerCysProAspAlaLeuPheAsnGluLeuValLysSerArgAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.107T>A" }, "RefSeq": { "hgvs": "NM_003165.6:c.107T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Leu36Ter" }, "RefSeq": { "hgvs": "NP_003156.1:p.Leu36Ter" } } } } ], "type": "nucleotide" }