{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA018662", "communityStandardTitle": [ "NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24413[alleleid]", "alleleId": 24413, "preferredName": "NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9374", "RCV": [ "RCV000009968", "RCV000183087", "RCV000477950", "RCV000465149", "RCV000622049", "RCV001841231", "RCV002496317", "RCV004528097", "RCV003996083" ], "variationId": 9374 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38592996G>A?assembly=hg19", "id": "chr3:g.38592996G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38551505G>A?assembly=hg38", "id": "chr3:g.38551505G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137854613", "rs": 137854613 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38592996-G-A?dataset=gnomad_r2_1", "id": "3-38592996-G-A", "variant": "3:38592996 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38551505-G-A?dataset=gnomad_r3", "id": "3-38551505-G-A", "variant": "3:38551505 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38551505-G-A?dataset=gnomad_r4", "id": "3-38551505-G-A", "variant": "3:38551505 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38551505, "referenceAllele": "G", "start": 38551504 } ], "hgvs": [ "NC_000003.12:g.38551505G>A", "CM000665.2:g.38551505G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38592996, "referenceAllele": "G", "start": 38592995 } ], "hgvs": [ "NC_000003.11:g.38592996G>A", "CM000665.1:g.38592996G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 38568000, "referenceAllele": "G", "start": 38567999 } ], "hgvs": [ "NC_000003.10:g.38568000G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 103168, "referenceAllele": "C", "start": 103167 } ], "hgvs": [ "NG_008934.1:g.103168C>T", "LRG_289:g.103168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001312" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5002, "referenceAllele": "C", "start": 5001 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000327956.7:c.4864C>T" ], "proteinEffect": { "hgvs": "ENSP00000333674.7:p.Arg1622Ter", "hgvsWellDefined": "ENSP00000333674.7:p.Arg1622_Val2015delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913961" }, { "coordinates": [ { "allele": "T", "end": 5076, "referenceAllele": "C", "start": 5075 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.9:c.4867C>T" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Arg1623Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747320" }, { "coordinates": [ { "allele": "T", "end": 5076, "referenceAllele": "C", "start": 5075 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.6:c.4867C>T" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Arg1623Ter", "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.4867C>T" }, "RefSeq": { "hgvs": "NM_001099404.2:c.4867C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Arg1623Ter" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Arg1623Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5073, "referenceAllele": "C", "start": 5072 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.7:c.4864C>T" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Arg1622Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.4864C>T" }, "RefSeq": { "hgvs": "NM_000335.5:c.4864C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Arg1622Ter" }, "RefSeq": { "hgvs": "NP_000326.2:p.Arg1622Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5017, "referenceAllele": "C", "start": 5016 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.8:c.4867C>T" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Arg1623Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247329" }, { "coordinates": [ { "allele": "T", "end": 5061, "referenceAllele": "C", "start": 5060 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.5:c.4867C>T" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Arg1623Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247165" }, { "coordinates": [ { "allele": "T", "end": 4855, "referenceAllele": "C", "start": 4854 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000414099.6:c.4813C>T" ], "proteinEffect": { "hgvs": "ENSP00000398962.2:p.Arg1605Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247373" }, { "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "C", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.6:c.4864C>T" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Arg1622Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247184" }, { "coordinates": [ { "allele": "T", "end": 5007, "referenceAllele": "C", "start": 5006 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000425664.5:c.4813C>T" ], "proteinEffect": { "hgvs": "ENSP00000416634.1:p.Arg1605Ter", "hgvsWellDefined": "ENSP00000416634.1:p.Arg1605_Val1998delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246629" }, { "coordinates": [ { "allele": "T", "end": 4714, "referenceAllele": "C", "start": 4713 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000449557.6:c.4705C>T" ], "proteinEffect": { "hgvs": "ENSP00000413996.2:p.Arg1569Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247361" }, { "coordinates": [ { "allele": "T", "end": 4747, "referenceAllele": "C", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000450102.6:c.4705C>T" ], "proteinEffect": { "hgvs": "ENSP00000403355.2:p.Arg1569Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247217" }, { "coordinates": [ { "allele": "T", "end": 4900, "referenceAllele": "C", "start": 4899 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000451551.6:c.4705C>T" ], "proteinEffect": { "hgvs": "ENSP00000388797.2:p.Arg1569Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247201" }, { "coordinates": [ { "allele": "T", "end": 4793, "referenceAllele": "C", "start": 4792 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000455624.6:c.4768C>T" ], "proteinEffect": { "hgvs": "ENSP00000399524.2:p.Arg1590Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247378" }, { "@id": "http://reg.genome.network/allele/PA120315", "coordinates": [ { "allele": "T", "end": 5058, "referenceAllele": "C", "start": 5057 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.4:c.4864C>T", "LRG_289t2:c.4864C>T" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Arg1622Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006398" }, { "@id": "http://reg.genome.network/allele/PA120316", "coordinates": [ { "allele": "T", "end": 5061, "referenceAllele": "C", "start": 5060 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.1:c.4867C>T", "LRG_289t3:c.4867C>T" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Arg1623Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010738" }, { "@id": "http://reg.genome.network/allele/PA2825496602", "coordinates": [ { "allele": "T", "end": 5007, "referenceAllele": "C", "start": 5006 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.1:c.4813C>T" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Arg1605Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010739" }, { "@id": "http://reg.genome.network/allele/PA2825942304", "coordinates": [ { "allele": "T", "end": 4963, "referenceAllele": "C", "start": 4962 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.1:c.4768C>T" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Arg1590Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS014136" }, { "@id": "http://reg.genome.network/allele/PA2825945317", "coordinates": [ { "allele": "T", "end": 4900, "referenceAllele": "C", "start": 4899 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.1:c.4705C>T" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Arg1569Ter", "hgvsWellDefined": "NP_001153633.1:p.Arg1569_Val1962delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014137" }, { "@id": "http://reg.genome.network/allele/PA120317", "coordinates": [ { "allele": "T", "end": 5061, "referenceAllele": "C", "start": 5060 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.2:c.4867C>T", "LRG_289t1:c.4867C>T" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Arg1623Ter", "hgvsWellDefined": "NP_932173.1:p.Arg1623_Val2016delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044407" }, { "coordinates": [ { "allele": "T", "end": 4999, "referenceAllele": "C", "start": 4998 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_006713282.2:c.4867C>T" ], "proteinEffect": { "hgvs": "XP_006713345.1:p.Arg1623Ter", "hgvsWellDefined": "XP_006713345.1:p.Arg1623_Val2016delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070082" }, { "coordinates": [ { "allele": "T", "end": 5053, "referenceAllele": "C", "start": 5052 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.1:c.4864C>T" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Arg1622Ter", "hgvsWellDefined": "XP_011532293.1:p.Arg1622_Val2015delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101009" }, { "coordinates": [ { "allele": "T", "end": 4845, "referenceAllele": "C", "start": 4844 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533992.1:c.4738C>T" ], "proteinEffect": { "hgvs": "XP_011532294.1:p.Arg1580Ter", "hgvsWellDefined": "XP_011532294.1:p.Arg1580_Val1973delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101010" }, { "@id": "http://reg.genome.network/allele/PA2827923562", "coordinates": [ { "allele": "T", "end": 5005, "referenceAllele": "C", "start": 5004 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.1:c.4810C>T" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Arg1604Ter", "hgvsWellDefined": "NP_001341630.1:p.Arg1604_Val1997delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522627" }, { "coordinates": [ { "allele": "T", "end": 5053, "referenceAllele": "C", "start": 5052 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.2:c.4864C>T" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Arg1622Ter", "hgvsWellDefined": "XP_011532293.1:p.Arg1622_Val2015delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551456" }, { "coordinates": [ { "allele": "T", "end": 4894, "referenceAllele": "C", "start": 4893 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_017007017.1:c.4705C>T" ], "proteinEffect": { "hgvs": "XP_016862506.1:p.Arg1569Ter", "hgvsWellDefined": "XP_016862506.1:p.Arg1569_Val1962delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561890" }, { "@id": "http://reg.genome.network/allele/PA120315", "coordinates": [ { "allele": "T", "end": 5073, "referenceAllele": "C", "start": 5072 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.5:c.4864C>T" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Arg1622Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674795", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.4864C>T" }, "RefSeq": { "hgvs": "NM_000335.5:c.4864C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Arg1622Ter" }, "RefSeq": { "hgvs": "NP_000326.2:p.Arg1622Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825942304", "coordinates": [ { "allele": "T", "end": 4977, "referenceAllele": "C", "start": 4976 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.2:c.4768C>T" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Arg1590Ter", "hgvsWellDefined": "NP_001153632.1:p.Arg1590_Val1983delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678128" }, { "@id": "http://reg.genome.network/allele/PA2827923562", "coordinates": [ { "allele": "T", "end": 5019, "referenceAllele": "C", "start": 5018 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.2:c.4810C>T" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Arg1604Ter", "hgvsWellDefined": "NP_001341630.1:p.Arg1604_Val1997delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690293" }, { "@id": "http://reg.genome.network/allele/PA120316", "coordinates": [ { "allele": "T", "end": 5076, "referenceAllele": "C", "start": 5075 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.2:c.4867C>T" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Arg1623Ter", "hgvsWellDefined": "NP_001092874.1:p.Arg1623_Val2016delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711956", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413689.6:c.4867C>T" }, "RefSeq": { "hgvs": "NM_001099404.2:c.4867C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Arg1623Ter" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Arg1623Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825496602", "coordinates": [ { "allele": "T", "end": 5022, "referenceAllele": "C", "start": 5021 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.2:c.4813C>T" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Arg1605Ter", "hgvsWellDefined": "NP_001092875.1:p.Arg1605_Val1998delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711957" }, { "@id": "http://reg.genome.network/allele/PA2825945317", "coordinates": [ { "allele": "T", "end": 4914, "referenceAllele": "C", "start": 4913 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.2:c.4705C>T" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Arg1569Ter", "hgvsWellDefined": "NP_001153633.1:p.Arg1569_Val1962delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712964" }, { "@id": "http://reg.genome.network/allele/PA120317", "coordinates": [ { "allele": "T", "end": 5076, "referenceAllele": "C", "start": 5075 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.3:c.4867C>T" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Arg1623Ter", "hgvsWellDefined": "NP_932173.1:p.Arg1623_Val2016delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetAlaAsnPheAlaTyrValLysTrpGluAlaGlyIleAspAspMetPheAsnPheGlnThrPheAlaAsnSerMetLeuCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuSerProIleLeuAsnThrGlyProProTyrCysAspProThrLeuProAsnSerAsnGlySerArgGlyAspCysGlySerProAlaValGlyIleLeuPhePheThrThrTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheAspMetPheTyrGluIleTrpGluLysPheAspProGluAlaThrGlnPheIleGluTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729873" } ], "type": "nucleotide" }