{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352139250", "communityStandardTitle": [ "NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2935190[alleleid]", "alleleId": 2935190, "preferredName": "NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2774462", "RCV": [ "RCV003592345" ], "variationId": 2774462 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38622493C>A?assembly=hg19", "id": "chr3:g.38622493C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38581002C>A?assembly=hg38", "id": "chr3:g.38581002C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137854617", "rs": 137854617 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38581002, "referenceAllele": "C", "start": 38581001 } ], "hgvs": [ "NC_000003.12:g.38581002C>A", "CM000665.2:g.38581002C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38622493, "referenceAllele": "C", "start": 38622492 } ], "hgvs": [ "NC_000003.11:g.38622493C>A", "CM000665.1:g.38622493C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38597497, "referenceAllele": "C", "start": 38597496 } ], "hgvs": [ "NC_000003.10:g.38597497C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 73671, "referenceAllele": "G", "start": 73670 } ], "hgvs": [ "NG_008934.1:g.73671G>T", "LRG_289:g.73671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001312" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000327956.7:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000333674.7:p.Glu1053Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913961" }, { "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.9:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Glu1053Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747320" }, { "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Glu1053Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754540", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413689.6:c.3157G>T" }, "RefSeq": { "hgvs": "NM_001099404.2:c.3157G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Glu1053Ter" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Glu1053Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.7:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000398266.2:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.3157G>T" }, "RefSeq": { "hgvs": "NM_000335.5:c.3157G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Glu1053Ter" }, "RefSeq": { "hgvs": "NP_000326.2:p.Glu1053Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3307, "referenceAllele": "G", "start": 3306 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.8:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000328968.4:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247329" }, { "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.5:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000410257.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247165" }, { "coordinates": [ { "allele": "T", "end": 3199, "referenceAllele": "G", "start": 3198 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000414099.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000398962.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000398962.2:p.Glu1053_Val1998delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247373" }, { "coordinates": [ { "allele": "T", "end": 3212, "referenceAllele": "G", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000398266.2:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247184" }, { "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000425664.5:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000416634.1:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000416634.1:p.Glu1053_Val1998delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246629" }, { "coordinates": [ { "allele": "T", "end": 3166, "referenceAllele": "G", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000449557.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000413996.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000413996.2:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247361" }, { "coordinates": [ { "allele": "T", "end": 3199, "referenceAllele": "G", "start": 3198 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000450102.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000403355.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000403355.2:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247217" }, { "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "G", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000451551.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000388797.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000388797.2:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247201" }, { "coordinates": [ { "allele": "T", "end": 3182, "referenceAllele": "G", "start": 3181 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000455624.6:c.3157G>T" ], "proteinEffect": { "hgvs": "ENSP00000399524.2:p.Glu1053Ter", "hgvsWellDefined": "ENSP00000399524.2:p.Glu1053_Val1983delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247378" }, { "@id": "http://reg.genome.network/allele/PA2825130566", "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.4:c.3157G>T", "LRG_289t2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Glu1053Ter", "hgvsWellDefined": "NP_000326.2:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006398" }, { "@id": "http://reg.genome.network/allele/PA2825538617", "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.1:c.3157G>T", "LRG_289t3:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001092874.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010738" }, { "@id": "http://reg.genome.network/allele/PA2825495032", "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.1:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001092875.1:p.Glu1053_Val1998delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010739" }, { "@id": "http://reg.genome.network/allele/PA2825941460", "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "G", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.1:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001153632.1:p.Glu1053_Val1983delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014136" }, { "@id": "http://reg.genome.network/allele/PA2825944516", "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "G", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.1:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001153633.1:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014137" }, { "@id": "http://reg.genome.network/allele/PA2742029410", "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.2:c.3157G>T", "LRG_289t1:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Glu1053Ter", "hgvsWellDefined": "NP_932173.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044407" }, { "coordinates": [ { "allele": "T", "end": 3289, "referenceAllele": "G", "start": 3288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_006713282.2:c.3157G>T" ], "proteinEffect": { "hgvs": "XP_006713345.1:p.Glu1053Ter", "hgvsWellDefined": "XP_006713345.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070082" }, { "coordinates": [ { "allele": "T", "end": 3346, "referenceAllele": "G", "start": 3345 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.1:c.3157G>T" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Glu1053Ter", "hgvsWellDefined": "XP_011532293.1:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101009" }, { "coordinates": [ { "allele": "T", "end": 3135, "referenceAllele": "G", "start": 3134 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533992.1:c.3028G>T" ], "proteinEffect": { "hgvs": "XP_011532294.1:p.Glu1010Ter", "hgvsWellDefined": "XP_011532294.1:p.Glu1010_Val1973delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101010" }, { "@id": "http://reg.genome.network/allele/PA2827922703", "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "G", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.1:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001341630.1:p.Glu1053_Val1997delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522627" }, { "coordinates": [ { "allele": "T", "end": 3346, "referenceAllele": "G", "start": 3345 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.2:c.3157G>T" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Glu1053Ter", "hgvsWellDefined": "XP_011532293.1:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551456" }, { "coordinates": [ { "allele": "T", "end": 3346, "referenceAllele": "G", "start": 3345 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_017007017.1:c.3157G>T" ], "proteinEffect": { "hgvs": "XP_016862506.1:p.Glu1053Ter", "hgvsWellDefined": "XP_016862506.1:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561890" }, { "@id": "http://reg.genome.network/allele/PA2825130566", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.5:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Glu1053Ter", "hgvsWellDefined": "NP_000326.2:p.Glu1053_Val2015delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674795", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.3157G>T" }, "RefSeq": { "hgvs": "NM_000335.5:c.3157G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Glu1053Ter" }, "RefSeq": { "hgvs": "NP_000326.2:p.Glu1053Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825941460", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001153632.1:p.Glu1053_Val1983delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678128" }, { "@id": "http://reg.genome.network/allele/PA2827922703", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001341630.1:p.Glu1053_Val1997delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690293" }, { "@id": "http://reg.genome.network/allele/PA2825538617", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001092874.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711956", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413689.6:c.3157G>T" }, "RefSeq": { "hgvs": "NM_001099404.2:c.3157G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Glu1053Ter" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Glu1053Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825495032", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001092875.1:p.Glu1053_Val1998delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711957" }, { "@id": "http://reg.genome.network/allele/PA2825944516", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.2:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Glu1053Ter", "hgvsWellDefined": "NP_001153633.1:p.Glu1053_Val1962delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712964" }, { "@id": "http://reg.genome.network/allele/PA2742029410", "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "G", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.3:c.3157G>T" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Glu1053Ter", "hgvsWellDefined": "NP_932173.1:p.Glu1053_Val2016delinsSerAspThrAspAspGlnGluGluAspGluGluAsnSerLeuGlyThrGluGluGluSerSerLysGlnGlnGluSerGlnProValSerGlyGlyProGluAlaProProAspSerArgThrTrpSerGlnValSerAlaThrAlaSerSerGluAlaGluAlaSerAlaSerGlnAlaAspTrpArgGlnGlnTrpLysAlaGluProGlnAlaProGlyCysGlyGluThrProGluAspSerCysSerGluGlySerThrAlaAspMetThrAsnThrAlaGluLeuLeuGluGlnIleProAspLeuGlyGlnAspValLysAspProGluAspCysPheThrGluGlyCysValArgArgCysProCysCysAlaValAspThrThrGlnAlaProGlyLysValTrpTrpArgLeuArgLysThrCysTyrHisIleValGluHisSerTrpPheGluThrPheIleIlePheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrLeuGluGluArgLysThrIleLysValLeuLeuGluTyrAlaAspLysMetPheThrTyrValPheValLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheLysLysTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuValAlaAsnThrLeuGlyPheAlaGluMetGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuValGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheGlyArgCysIleAsnGlnThrGluGlyAspLeuProLeuAsnTyrThrIleValAsnAsnLysSerGlnCysGluSerLeuAsnLeuThrGlyGluLeuTyrTrpThrLysValLysValAsnPheAspAsnValGlyAlaGlyTyrLeuAlaLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgGlyTyrGluGluGlnProGlnTrpGluTyrAsnLeuTyrMetTyrIleTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProLeuAsnLysTyrGlnGlyPheIlePheAspIleValThrLysGlnAlaPheAspValThrIleMetPheLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerProGluLysIleAsnIleLeuAlaLysIleAsnLeuLeuPheValAlaIlePheThrGlyGluCysIleValLysLeuAlaAlaLeuArgHisTyrTyrPheThrAsnSerTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyThrValLeuSerAspIleIleGlnLysTyrPhePheSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729873" } ], "type": "nucleotide" }