{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10584158", "communityStandardTitle": [ "NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244298[alleleid]", "alleleId": 244298, "preferredName": "NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/246553", "RCV": [ "RCV000236372" ], "variationId": 246553 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.167055757C>A?assembly=hg19", "id": "chr2:g.167055757C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166199247C>A?assembly=hg38", "id": "chr2:g.166199247C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/770416478", "rs": 770416478 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166199247, "referenceAllele": "C", "start": 166199246 } ], "hgvs": [ "NC_000002.12:g.166199247C>A", "CM000664.2:g.166199247C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 167055757, "referenceAllele": "C", "start": 167055756 } ], "hgvs": [ "NC_000002.11:g.167055757C>A", "CM000664.1:g.167055757C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166764003, "referenceAllele": "C", "start": 166764002 } ], "hgvs": [ "NC_000002.10:g.166764003C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 181741, "referenceAllele": "G", "start": 181740 } ], "hgvs": [ "NG_012798.1:g.181741G>T", "LRG_369:g.181741G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002537" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5640, "referenceAllele": "G", "start": 5639 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.11:c.5392G>T" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Glu1798Ter", "hgvsWellDefined": "ENSP00000304748.7:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745024" }, { "coordinates": [ { "allele": "T", "end": 5392, "referenceAllele": "G", "start": 5391 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.6:c.5392G>T" ], "proteinEffect": { "hgvs": "ENSP00000386330.2:p.Glu1798Ter", "hgvsWellDefined": "ENSP00000386330.2:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754301" }, { "coordinates": [ { "allele": "T", "end": 5690, "referenceAllele": "G", "start": 5689 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000642356.2:c.5392G>T" ], "proteinEffect": { "hgvs": "ENSP00000495601.1:p.Glu1798Ter", "hgvsWellDefined": "ENSP00000495601.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766697", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.5392G>T" }, "RefSeq": { "hgvs": "NM_001365536.1:c.5392G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Glu1798Ter" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Glu1798Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5236, "referenceAllele": "G", "start": 5235 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000644316.1:c.5236G>T" ], "proteinEffect": { "hgvs": "ENSP00000493939.1:p.Glu1746Ter", "hgvsWellDefined": "ENSP00000493939.1:p.Glu1746_Lys1936delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767756" }, { "coordinates": [ { "allele": "T", "end": 5607, "referenceAllele": "G", "start": 5606 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000645907.1:c.5359G>T" ], "proteinEffect": { "hgvs": "ENSP00000495983.1:p.Glu1787Ter", "hgvsWellDefined": "ENSP00000495983.1:p.Glu1787_Lys1977delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768602" }, { "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000646694.1:n.1769G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769016" }, { "coordinates": [ { "allele": "T", "end": 5733, "referenceAllele": "G", "start": 5732 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.10:c.5392G>T" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Glu1798Ter", "hgvsWellDefined": "ENSP00000304748.7:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255307" }, { "coordinates": [ { "allele": "T", "end": 5392, "referenceAllele": "G", "start": 5391 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.5:c.5392G>T" ], "proteinEffect": { "hgvs": "ENSP00000386330.1:p.Glu1798Ter", "hgvsWellDefined": "ENSP00000386330.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281545" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "G", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409672.5:c.5359G>T" ], "proteinEffect": { "hgvs": "ENSP00000386306.1:p.Glu1787Ter", "hgvsWellDefined": "ENSP00000386306.1:p.Glu1787_Lys1977delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281751" }, { "@id": "http://reg.genome.network/allele/PA645392554", "coordinates": [ { "allele": "T", "end": 5700, "referenceAllele": "G", "start": 5699 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_002977.3:c.5359G>T", "LRG_369t1:c.5359G>T" ], "proteinEffect": { "hgvs": "NP_002968.1:p.Glu1787Ter", "hgvsWellDefined": "NP_002968.1:p.Glu1787_Lys1977delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028260" }, { "coordinates": [ { "allele": "A", "end": 431, "endIntronDirection": "-", "endIntronOffset": 391, "referenceAllele": "C", "start": 431, "startIntronDirection": "-", "startIntronOffset": 392 } ], "gene": "http://reg.genome.network/gene/GN054069", "geneNCBI_id": 101929680, "geneSymbol": "SCN1A-AS1", "hgvs": [ "NR_110260.1:n.432-392C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054541" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "G", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_005246757.1:c.5392G>T" ], "proteinEffect": { "hgvs": "XP_005246814.1:p.Glu1798Ter", "hgvsWellDefined": "XP_005246814.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057779" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "G", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.1:c.5392G>T" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Glu1798Ter", "hgvsWellDefined": "XP_011509918.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078877" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "G", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.1:c.5392G>T" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Glu1798Ter", "hgvsWellDefined": "XP_011509919.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078878" }, { "coordinates": [ { "allele": "T", "end": 5673, "referenceAllele": "G", "start": 5672 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.1:c.5359G>T" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Glu1787Ter", "hgvsWellDefined": "XP_011509920.1:p.Glu1787_Lys1977delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078879" }, { "@id": "http://reg.genome.network/allele/PA916045469", "coordinates": [ { "allele": "T", "end": 5690, "referenceAllele": "G", "start": 5689 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_001365536.1:c.5392G>T" ], "proteinEffect": { "hgvs": "NP_001352465.1:p.Glu1798Ter", "hgvsWellDefined": "NP_001352465.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524144", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.5392G>T" }, "RefSeq": { "hgvs": "NM_001365536.1:c.5392G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Glu1798Ter" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Glu1798Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5668, "referenceAllele": "G", "start": 5667 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.3:c.5392G>T" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Glu1798Ter", "hgvsWellDefined": "XP_011509918.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542212" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "G", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.2:c.5392G>T" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Glu1798Ter", "hgvsWellDefined": "XP_011509919.1:p.Glu1798_Lys1988delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542213" }, { "coordinates": [ { "allele": "T", "end": 5673, "referenceAllele": "G", "start": 5672 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.2:c.5359G>T" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Glu1787Ter", "hgvsWellDefined": "XP_011509920.1:p.Glu1787_Lys1977delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542214" }, { "coordinates": [ { "allele": "T", "end": 5235, "referenceAllele": "G", "start": 5234 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004668.1:c.5005G>T" ], "proteinEffect": { "hgvs": "XP_016860157.1:p.Glu1669Ter", "hgvsWellDefined": "XP_016860157.1:p.Glu1669_Lys1859delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560118" }, { "coordinates": [ { "allele": "T", "end": 4793, "referenceAllele": "G", "start": 4792 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004669.1:c.4648G>T" ], "proteinEffect": { "hgvs": "XP_016860158.1:p.Glu1550Ter", "hgvsWellDefined": "XP_016860158.1:p.Glu1550_Lys1740delinsPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560119" } ], "type": "nucleotide" }