{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA119890", "communityStandardTitle": [ "NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23793[alleleid]", "alleleId": 23793, "preferredName": "NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8754", "RCV": [ "RCV000009297", "RCV003555985", "RCV003934814" ], "variationId": 8754 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48543900G>A?assembly=hg19", "id": "chr15:g.48543900G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48251703G>A?assembly=hg38", "id": "chr15:g.48251703G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853159", "rs": 137853159 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48543900-G-A?dataset=gnomad_r2_1", "id": "15-48543900-G-A", "variant": "15:48543900 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48251703-G-A?dataset=gnomad_r3", "id": "15-48251703-G-A", "variant": "15:48251703 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48251703-G-A?dataset=gnomad_r4", "id": "15-48251703-G-A", "variant": "15:48251703 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48251703, "referenceAllele": "G", "start": 48251702 } ], "hgvs": [ "NC_000015.10:g.48251703G>A", "CM000677.2:g.48251703G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48543900, "referenceAllele": "G", "start": 48543899 } ], "hgvs": [ "NC_000015.9:g.48543900G>A", "CM000677.1:g.48543900G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 46331192, "referenceAllele": "G", "start": 46331191 } ], "hgvs": [ "NC_000015.8:g.46331192G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 50403, "referenceAllele": "G", "start": 50402 } ], "hgvs": [ "NG_021301.1:g.50403G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003546" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000686073.1:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000508901.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000508901.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830385" }, { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.8:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752470", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.1875G>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.1875G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Trp625Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Trp625Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000646012.1:c.2013G>A" ], "proteinEffect": { "hgvs": "ENSP00000495813.1:p.Trp671Ter", "hgvsWellDefined": "ENSP00000495813.1:p.Trp672_Ser1145delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768651" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647232.1:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000493875.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000493875.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769300" }, { "coordinates": [ { "allele": "A", "end": 2233, "referenceAllele": "G", "start": 2232 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647546.1:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000495332.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000495332.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769476" }, { "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.7:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273173" }, { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000396577.7:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000379822.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000379822.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277336" }, { "coordinates": [ { "allele": "A", "end": 5998, "referenceAllele": "G", "start": 5997 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558252.5:n.5998G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373663" }, { "coordinates": [ { "allele": "A", "end": 1889, "referenceAllele": "G", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558405.5:c.1875G>A" ], "proteinEffect": { "hgvs": "ENSP00000453409.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000453409.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373773" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000559641.5:c.1314G>A" ], "proteinEffect": { "hgvs": "ENSP00000453230.1:p.Trp438Ter", "hgvsWellDefined": "ENSP00000453230.1:p.Trp438Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS374743" }, { "coordinates": [ { "allele": "A", "end": 6014, "referenceAllele": "G", "start": 6013 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000560692.5:n.6014G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS375541" }, { "@id": "http://reg.genome.network/allele/PA119891", "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.2:c.1875G>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Trp625Ter", "hgvsWellDefined": "NP_000329.2:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006401" }, { "@id": "http://reg.genome.network/allele/PA915995932", "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.1:c.1875G>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Trp625Ter", "hgvsWellDefined": "NP_001171761.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016002" }, { "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "G", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254605.1:c.1971G>A" ], "proteinEffect": { "hgvs": "XP_005254662.1:p.Trp657Ter", "hgvsWellDefined": "XP_005254662.1:p.Trp658_Ser1131delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060682" }, { "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.1:c.1875G>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Trp625Ter", "hgvsWellDefined": "XP_005254663.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060683" }, { "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "G", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_006720656.1:c.1971G>A" ], "proteinEffect": { "hgvs": "XP_006720719.1:p.Trp657Ter", "hgvsWellDefined": "XP_006720719.1:p.Trp658_Pro1097delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuLeuArgGlyCysGlnSerGlnCysTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073748" }, { "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "G", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XR_931896.1:n.2187G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127969" }, { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.2:c.1875G>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Trp625Ter", "hgvsWellDefined": "XP_005254663.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534145" }, { "@id": "http://reg.genome.network/allele/PA119891", "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.3:c.1875G>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Trp625Ter", "hgvsWellDefined": "NP_000329.2:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.1875G>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.1875G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Trp625Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Trp625Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915995932", "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.2:c.1875G>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Trp625Ter", "hgvsWellDefined": "NP_001171761.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679016" }, { "@id": "http://reg.genome.network/allele/PA2741882266", "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001384136.1:c.1875G>A" ], "proteinEffect": { "hgvs": "NP_001371065.1:p.Trp625Ter", "hgvsWellDefined": "NP_001371065.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722663" } ], "type": "nucleotide" }