{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA269490021", "communityStandardTitle": [ "NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2402268[alleleid]", "alleleId": 2402268, "preferredName": "NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2428826", "RCV": [ "RCV003120427" ], "variationId": 2428826 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48559884C>T?assembly=hg19", "id": "chr15:g.48559884C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48267687C>T?assembly=hg38", "id": "chr15:g.48267687C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199877869", "rs": 199877869 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48559884-C-T?dataset=gnomad_r2_1", "id": "15-48559884-C-T", "variant": "15:48559884 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48267687-C-T?dataset=gnomad_r3", "id": "15-48267687-C-T", "variant": "15:48267687 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48267687-C-T?dataset=gnomad_r4", "id": "15-48267687-C-T", "variant": "15:48267687 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 48267687, "referenceAllele": "C", "start": 48267686 } ], "hgvs": [ "NC_000015.10:g.48267687C>T", "CM000677.2:g.48267687C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 48559884, "referenceAllele": "C", "start": 48559883 } ], "hgvs": [ "NC_000015.9:g.48559884C>T", "CM000677.1:g.48559884C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 46347176, "referenceAllele": "C", "start": 46347175 } ], "hgvs": [ "NC_000015.8:g.46347176C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 66387, "referenceAllele": "C", "start": 66386 } ], "hgvs": [ "NG_021301.1:g.66387C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003546" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000686073.1:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000508901.1:p.Arg761Ter", "hgvsWellDefined": "ENSP00000508901.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830385" }, { "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.8:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Arg761Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752470", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.2281C>T" }, "RefSeq": { "hgvs": "NM_000338.3:c.2281C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Arg761Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Arg761Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2811, "referenceAllele": "C", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000646012.1:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000495813.1:p.Arg807Ter", "hgvsWellDefined": "ENSP00000495813.1:p.Arg807_Ser1145delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768651" }, { "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647232.1:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000493875.1:p.Arg761Ter", "hgvsWellDefined": "ENSP00000493875.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769300" }, { "coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647546.1:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000495332.1:p.Arg761Ter", "hgvsWellDefined": "ENSP00000495332.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769476" }, { "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.7:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Arg761Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273173" }, { "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000396577.7:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000379822.3:p.Arg761Ter", "hgvsWellDefined": "ENSP00000379822.3:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277336" }, { "coordinates": [ { "allele": "T", "end": 6404, "referenceAllele": "C", "start": 6403 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558252.5:n.6404C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS373663" }, { "coordinates": [ { "allele": "T", "end": 2295, "referenceAllele": "C", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558405.5:c.2281C>T" ], "proteinEffect": { "hgvs": "ENSP00000453409.1:p.Arg761Ter", "hgvsWellDefined": "ENSP00000453409.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373773" }, { "coordinates": [ { "allele": "T", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000559641.5:c.1720C>T" ], "proteinEffect": { "hgvs": "ENSP00000453230.1:p.Arg574Ter", "hgvsWellDefined": "ENSP00000453230.1:p.Arg574Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS374743" }, { "coordinates": [ { "allele": "T", "end": 6420, "referenceAllele": "C", "start": 6419 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000560692.5:n.6420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375541" }, { "@id": "http://reg.genome.network/allele/PA2825142596", "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.2:c.2281C>T" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Arg761Ter", "hgvsWellDefined": "NP_000329.2:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006401" }, { "@id": "http://reg.genome.network/allele/PA2826147705", "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.1:c.2281C>T" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Arg761Ter", "hgvsWellDefined": "NP_001171761.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016002" }, { "coordinates": [ { "allele": "T", "end": 2593, "referenceAllele": "C", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254605.1:c.2377C>T" ], "proteinEffect": { "hgvs": "XP_005254662.1:p.Arg793Ter", "hgvsWellDefined": "XP_005254662.1:p.Arg793_Ser1131delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060682" }, { "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.1:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Arg761Ter", "hgvsWellDefined": "XP_005254663.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060683" }, { "coordinates": [ { "allele": "T", "end": 2593, "referenceAllele": "C", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_006720656.1:c.2377C>T" ], "proteinEffect": { "hgvs": "XP_006720719.1:p.Arg793Ter", "hgvsWellDefined": "XP_006720719.1:p.Arg793_Pro1097delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuLeuArgGlyCysGlnSerGlnCysTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073748" }, { "coordinates": [ { "allele": "T", "end": 2593, "referenceAllele": "C", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XR_931896.1:n.2593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127969" }, { "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.2:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Arg761Ter", "hgvsWellDefined": "XP_005254663.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534145" }, { "coordinates": [ { "allele": "A", "end": 1001, "endIntronDirection": "-", "endIntronOffset": 1439, "referenceAllele": "G", "start": 1001, "startIntronDirection": "-", "startIntronOffset": 1440 } ], "hgvs": [ "XR_001751523.1:n.1002-1440G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598401" }, { "@id": "http://reg.genome.network/allele/PA2825142596", "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.3:c.2281C>T" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Arg761Ter", "hgvsWellDefined": "NP_000329.2:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.2281C>T" }, "RefSeq": { "hgvs": "NM_000338.3:c.2281C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Arg761Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Arg761Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826147705", "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.2:c.2281C>T" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Arg761Ter", "hgvsWellDefined": "NP_001171761.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679016" }, { "@id": "http://reg.genome.network/allele/PA2580239785", "coordinates": [ { "allele": "T", "end": 2496, "referenceAllele": "C", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001384136.1:c.2281C>T" ], "proteinEffect": { "hgvs": "NP_001371065.1:p.Arg761Ter", "hgvsWellDefined": "NP_001371065.1:p.Arg761_Ser1099delinsSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722663" } ], "type": "nucleotide" }