{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041727", "communityStandardTitle": [ "NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358293[alleleid]", "alleleId": 358293, "preferredName": "NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370269", "RCV": [ "RCV000409255", "RCV001865260" ], "variationId": 370269 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34567564C>A?assembly=hg19", "id": "chr15:g.34567564C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34275363C>A?assembly=hg38", "id": "chr15:g.34275363C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/573444140", "rs": 573444140 } ], "gnomAD_2": [ { "@id": 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"ENSP00000452904.1:p.Glu41_Leu942delinsHisSerGlnLeuLeuAspAspGlyHisLysLysAlaArgAsnAlaTyrLeuAsnAsnSerAsnTyrGluGluGlyAspGluTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetValArgLysLeuSerLeuArgTyrLysSerMetThrValIleTyrGlnHisIleLeuThrSerAlaLeuTer" 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"gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560611.5:c.298G>T" ], "proteinEffect": { "hgvs": "ENSP00000454168.1:p.Glu100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS375479" }, { "coordinates": [ { "allele": "T", "end": 1675, "referenceAllele": "G", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000561080.5:c.298G>T" ], "proteinEffect": { "hgvs": "ENSP00000454069.1:p.Glu100Ter", "hgvsWellDefined": "ENSP00000454069.1:p.Glu100_Tyr906delinsHisSerGlnLeuLeuAspAspGlyHisLysLysAlaArgAsnAlaTyrLeuAsnAsnSerAsnTyrGluGluGlyAspGluTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" 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"http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.1:c.298G>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Glu100Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001365088.1:c.298G>T" ], "proteinEffect": { "hgvs": "NP_001352017.1:p.Glu100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.298G>T" }, "RefSeq": { "hgvs": "NM_001365088.1:c.298G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Glu100Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Glu100Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.4:c.298G>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Glu100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540170" }, { "coordinates": [ { "allele": 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"http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.2:c.298G>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Glu100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729120" } ], "type": "nucleotide" }