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"NP_001027392.1:p.Arg388_Ser594delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009051" }, { "@id": "http://reg.genome.network/allele/PA118457", "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "C", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.3:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Arg388Ter", "hgvsWellDefined": "NP_003156.1:p.Arg388_Glu603delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028433" }, { "@id": "http://reg.genome.network/allele/PA2825360093", "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001032221.6:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001027392.1:p.Arg388Ter", "hgvsWellDefined": "NP_001027392.1:p.Arg388_Ser594delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373299.5:c.1162C>T" }, "RefSeq": { "hgvs": "NM_001032221.6:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362396.2:p.Arg388Ter" }, "RefSeq": { "hgvs": "NP_001027392.1:p.Arg388Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828497025", "coordinates": [ { "allele": "T", "end": 1280, "referenceAllele": "C", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374306.2:c.1153C>T" ], "proteinEffect": { "hgvs": "NP_001361235.1:p.Arg385Ter", "hgvsWellDefined": "NP_001361235.1:p.Arg385_Ser591delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693213" }, { "@id": "http://reg.genome.network/allele/PA2828497593", "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374307.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361236.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361236.1:p.Arg374_Glu589delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693214" }, { "@id": "http://reg.genome.network/allele/PA2828498174", "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374308.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361237.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361237.1:p.Arg374_Glu589delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693215" }, { "@id": "http://reg.genome.network/allele/PA2828498755", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374309.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361238.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361238.1:p.Arg374_Ser580delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693216" }, { "@id": "http://reg.genome.network/allele/PA2828499324", "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374310.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361239.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361239.1:p.Arg374_Ser580delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693217" }, { "@id": "http://reg.genome.network/allele/PA2828499891", "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374311.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361240.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361240.1:p.Arg374_Ser580delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693218" }, { "@id": "http://reg.genome.network/allele/PA2828500436", "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374312.2:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_001361241.1:p.Arg374Ter", "hgvsWellDefined": "NP_001361241.1:p.Arg374_Ser580delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693219" }, { "@id": "http://reg.genome.network/allele/PA2828501024", "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374313.2:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001361242.1:p.Arg388Ter", "hgvsWellDefined": "NP_001361242.1:p.Arg388_Arg577delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693220" }, { "@id": "http://reg.genome.network/allele/PA2828501601", "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374314.1:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001361243.1:p.Arg388Ter", "hgvsWellDefined": "NP_001361243.1:p.Arg388_Ser574delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693221" }, { "@id": "http://reg.genome.network/allele/PA2828502134", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374315.2:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_001361244.1:p.Arg352Ter", "hgvsWellDefined": "NP_001361244.1:p.Arg352_Glu567delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693222" }, { "@id": "http://reg.genome.network/allele/PA118457", "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.6:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Arg388Ter", "hgvsWellDefined": "NP_003156.1:p.Arg388_Glu603delinsAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.1162C>T" }, "RefSeq": { "hgvs": "NM_003165.6:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Arg388Ter" }, "RefSeq": { "hgvs": "NP_003156.1:p.Arg388Ter" } } } } ], "type": "nucleotide" }