{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7620046", "communityStandardTitle": [ "NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063392[alleleid]", "alleleId": 1063392, "preferredName": "NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068778", "RCV": [ "RCV001380449", "RCV002488199" ], "variationId": 1068778 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-65931951-C-T", "id": "15-65931951-C-T", "variant": "15:65931951 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.65931951C>T?assembly=hg19", "id": "chr15:g.65931951C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.65639613C>T?assembly=hg38", "id": "chr15:g.65639613C>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250882" }, { "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "C", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000339868.10:c.1963C>T" ], "proteinEffect": { "hgvs": "ENSP00000341837.7:p.Arg655Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260968" }, { "coordinates": [ { "allele": "T", "end": 2045, "referenceAllele": "C", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000399033.8:c.1963C>T" ], "proteinEffect": { "hgvs": "ENSP00000381991.4:p.Arg655Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278524" }, { "coordinates": [ { "allele": "T", "end": 3384, "referenceAllele": "C", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000434116.6:n.3384C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292881" }, { "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000537259.5:c.1909C>T" ], "proteinEffect": { "hgvs": "ENSP00000439693.1:p.Arg637Ter", "hgvsWellDefined": "ENSP00000439693.1:p.Arg637_His1012delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360684" }, { "coordinates": [ { "allele": "T", "end": 2100, "endIntronDirection": "-", "endIntronOffset": 10768, "referenceAllele": "C", "start": 2100, "startIntronDirection": "-", "startIntronOffset": 10769 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000544319.6:c.1891-10769C>T" ], "proteinEffect": { "hgvs": "ENSP00000445163.1:n.1891-10769C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS364502" }, { "coordinates": [ { "allele": "T", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "ENST00000546330.1:c.1909C>T" ], "proteinEffect": { "hgvs": "ENSP00000439190.1:p.Arg637Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS365573" }, { "@id": "http://reg.genome.network/allele/PA2826859462", "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301031.1:c.1963C>T" ], "proteinEffect": { "hgvs": "NP_001287960.1:p.Arg655Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025056" }, { "@id": "http://reg.genome.network/allele/PA2826859951", "coordinates": [ { "allele": "T", "end": 2035, "referenceAllele": "C", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301032.1:c.1909C>T" ], "proteinEffect": { "hgvs": "NP_001287961.1:p.Arg637Ter", "hgvsWellDefined": "NP_001287961.1:p.Arg637_Val1081delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025057" }, { "@id": "http://reg.genome.network/allele/PA2826860557", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301033.1:c.1909C>T" ], "proteinEffect": { "hgvs": "NP_001287962.1:p.Arg637Ter", "hgvsWellDefined": "NP_001287962.1:p.Arg637_His1012delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025058" }, { "@id": "http://reg.genome.network/allele/PA2499268994", "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "C", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_004727.2:c.1963C>T" ], "proteinEffect": { "hgvs": "NP_004718.1:p.Arg655Ter", "hgvsWellDefined": "NP_004718.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029876" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254778.3:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_005254835.1:p.Arg655Ter", "hgvsWellDefined": "XP_005254835.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060755" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254781.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_005254838.1:p.Arg655Ter", "hgvsWellDefined": "XP_005254838.1:p.Arg655_Gly717delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060756" }, { "coordinates": [ { "allele": "T", "end": 2928, "referenceAllele": "C", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720764.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_006720827.1:p.Arg655Ter", "hgvsWellDefined": "XP_006720827.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073800" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720767.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_006720830.1:p.Arg655Ter", "hgvsWellDefined": "XP_006720830.1:p.Arg655_His1030delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073801" }, { "coordinates": [ { "allele": "T", "end": 2151, "endIntronDirection": "-", "endIntronOffset": 10768, "referenceAllele": "C", "start": 2151, "startIntronDirection": "-", "startIntronOffset": 10769 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720768.2:c.1891-10769C>T" ], "proteinEffect": { "hgvs": "XP_006720831.1:n.1891-10769C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073802" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720769.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_006720832.1:p.Arg655Ter", "hgvsWellDefined": "XP_006720832.1:p.Arg655_Leu935delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073803" }, { "coordinates": [ { "allele": "T", "end": 2318, "referenceAllele": "C", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522219.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520521.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520521.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089375" }, { "coordinates": [ { "allele": "T", "end": 2170, "referenceAllele": "C", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522220.1:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_011520522.1:p.Arg637Ter", "hgvsWellDefined": "XP_011520522.1:p.Arg637_Val1081delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089376" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522221.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520523.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520523.1:p.Arg655_Val1069delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089377" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522222.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520524.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520524.1:p.Arg655_His1030delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089378" }, { "coordinates": [ { "allele": "T", "end": 2170, "referenceAllele": "C", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522223.1:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_011520525.1:p.Arg637Ter", "hgvsWellDefined": "XP_011520525.1:p.Arg637_His1012delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089379" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522225.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520527.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520527.1:p.Arg655_Leu935delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089380" }, { "coordinates": [ { "allele": "T", "end": 2224, "referenceAllele": "C", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522226.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520528.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520528.1:p.Arg655_Gly688delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089381" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254778.4:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_005254835.1:p.Arg655Ter", "hgvsWellDefined": "XP_005254835.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534183" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_005254781.4:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_005254838.1:p.Arg655Ter", "hgvsWellDefined": "XP_005254838.1:p.Arg655_Gly717delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534184" }, { "coordinates": [ { "allele": "T", "end": 2956, "endIntronDirection": "-", "endIntronOffset": 10768, "referenceAllele": "C", "start": 2956, "startIntronDirection": "-", "startIntronOffset": 10769 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_006720768.4:c.1891-10769C>T" ], "proteinEffect": { "hgvs": "XP_006720831.1:n.1891-10769C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540165" }, { "coordinates": [ { "allele": "T", "end": 2975, "referenceAllele": "C", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522220.3:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_011520522.1:p.Arg637Ter", "hgvsWellDefined": "XP_011520522.1:p.Arg637_Val1081delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546527" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522221.3:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520523.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520523.1:p.Arg655_Val1069delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546528" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522222.3:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520524.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520524.1:p.Arg655_His1030delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546529" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_011522226.3:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011520528.1:p.Arg655Ter", "hgvsWellDefined": "XP_011520528.1:p.Arg655_Gly688delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluGlyArgCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546530" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_017022724.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_016878213.1:p.Arg655Ter", "hgvsWellDefined": "XP_016878213.1:p.Arg655_Ala1049delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValTrpLeuLeuLeuProArgLeuValCysAsnGlyValIleSerAlaHisHisAsnLeuHisLeuProGlySerSerAsnSerProAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573633" }, { "coordinates": [ { "allele": "T", "end": 3029, "referenceAllele": "C", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_017022725.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_016878214.1:p.Arg655Ter", "hgvsWellDefined": "XP_016878214.1:p.Arg655_Ser966delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnSerLeuAlaLeuValAlaGlnAlaGlyValGlnTrpArgAspLeuGlyThrProGlnProSerProProArgPheLysGlnPheSerCysLeuSerLeuLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573634" }, { "coordinates": [ { "allele": "T", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450103.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_024305871.1:p.Arg655Ter", "hgvsWellDefined": "XP_024305871.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583644" }, { "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450104.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_024305872.1:p.Arg655Ter", "hgvsWellDefined": "XP_024305872.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583645" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "C", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450105.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_024305873.1:p.Arg655Ter", "hgvsWellDefined": "XP_024305873.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583646" }, { "coordinates": [ { "allele": "T", "end": 2975, "referenceAllele": "C", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "XM_024450106.1:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_024305874.1:p.Arg637Ter", "hgvsWellDefined": "XP_024305874.1:p.Arg637_His1012delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583647" }, { "@id": "http://reg.genome.network/allele/PA2499268994", "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_004727.3:c.1963C>T" ], "proteinEffect": { "hgvs": "NP_004718.1:p.Arg655Ter", "hgvsWellDefined": "NP_004718.1:p.Arg655_Val1099delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyLeuProValProTrpLeuLeuPheSerLeuIleAsnGlyLeuGlnProValProValSerSerAsnGlyLeuPheCysAlaIleValLeuLeuPheLeuMetLeuLeuPheValIleSerSerIleAlaSerCysLysTrpArgMetAsnLysIleLeuGlyPheThrMetPheLeuLeuTyrPheValPheLeuIleIleSerValMetLeuGluAspArgIleIleSerCysProValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666625", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261892.11:c.1963C>T" }, "RefSeq": { "hgvs": "NM_004727.3:c.1963C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261892.6:p.Arg655Ter" }, "RefSeq": { "hgvs": "NP_004718.1:p.Arg655Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826860557", "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "C", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN010975", "geneNCBI_id": 9187, "geneSymbol": "SLC24A1", "hgvs": [ "NM_001301033.2:c.1909C>T" ], "proteinEffect": { "hgvs": "NP_001287962.1:p.Arg637Ter", "hgvsWellDefined": "NP_001287962.1:p.Arg637_His1012delinsGlySerSerSerThrSerLeuHisAsnSerThrIleArgSerThrIleTyrGlnLeuMetLeuHisSerLeuAspProLeuArgGluValArgLeuAlaLysGluLysGluGluGluSerLeuAsnGlnGlyAlaArgAlaGlnProGlnAlaLysAlaGluSerLysProGluGluGluGluProAlaLysLeuProAlaValThrValThrProAlaProValProAspIleLysGlyAspGlnLysGluAsnProGlyGlyGlnGluAspValAlaGluAlaGluSerThrGlyGluMetProGlyGluGluGlyGluThrAlaGlyGluGlyGluThrGluGluLysSerGlyGlyGluThrGlnProGluGlyGluGlyGluThrGluThrGlnGlyLysGlyGluGluCysGluAspGluAsnGluAlaGluGlyLysGlyAspAsnGluGlyGluAspGluGlyGluIleHisAlaGluAspGlyGluMetLysGlyAsnGluGlyGluThrGluSerGlnGluLeuSerAlaGluAsnHisGlyGluAlaLysAsnAspGluLysGlyValGluAspGlyGlyGlySerAspGlyGlyAspSerGluGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGlnGluGluGluGluGluGluGluGluGluGluGluGluLysGlyAsnGluGluProLeuSerLeuAspTrpProGluThrArgGlnLysGlnAlaIleTyrLeuPheLeuLeuProIleValPheProLeuTrpLeuThrValProAspValArgArgGlnGluSerArgLysPhePheValPheThrPheLeuGlySerIleMetTrpIleAlaMetPheSerTyrLeuMetValTrpTrpAlaHisGlnValGlyGluThrIleGlyIleSerGluGluIleMetGlyLeuThrIleLeuAlaAlaGlyThrSerIleProAspLeuIleThrSerValIleValAlaArgLysGlyLeuGlyAspMetAlaValSerSerSerValGlySerAsnIlePheAspIleThrValGlyValGlySerCysGluMetPheGlnHisGlyAlaIleHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683316" } ], "type": "nucleotide" }