{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA224273", "communityStandardTitle": [ "NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102472[alleleid]", "alleleId": 102472, "preferredName": "NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96579", "RCV": [ "RCV000177426", "RCV000790829" ], "variationId": 96579 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.80838945T>G?assembly=hg19", "id": "chr6:g.80838945T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.80129228T>G?assembly=hg38", "id": "chr6:g.80129228T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124573", "rs": 398124573 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-80838945-T-G?dataset=gnomad_r2_1", "id": "6-80838945-T-G", "variant": "6:80838945 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-80129228-T-G?dataset=gnomad_r4", "id": "6-80129228-T-G", "variant": "6:80129228 T / G" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 80129228, "referenceAllele": "T", "start": 80129227 } ], "hgvs": [ "NC_000006.12:g.80129228T>G", "CM000668.2:g.80129228T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 80838945, "referenceAllele": "T", "start": 80838944 } ], "hgvs": [ "NC_000006.11:g.80838945T>G", "CM000668.1:g.80838945T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 80895664, "referenceAllele": "T", "start": 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"ENSP00000318351.5:p.Tyr114_Tyr392delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257799" }, { "coordinates": [ { "allele": "G", "end": 389, 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"ENSP00000348880.5:p.Tyr114_Tyr392delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263777" }, { "coordinates": [ { "allele": "G", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000369760.8:c.342T>G" ], "proteinEffect": { "hgvs": "ENSP00000358775.4:p.Tyr114Ter", "hgvsWellDefined": "ENSP00000358775.4:p.Tyr114_Ser218delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysIleLysValIleSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267690" }, { "coordinates": [ { "allele": "G", "end": 256, "referenceAllele": "T", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000486968.1:n.256T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325644" }, { "@id": "http://reg.genome.network/allele/PA224275", "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_000056.3:c.342T>G" ], "proteinEffect": { "hgvs": "NP_000047.1:p.Tyr114Ter", "hgvsWellDefined": "NP_000047.1:p.Tyr114_Tyr392delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006121" }, { "@id": "http://reg.genome.network/allele/PA224274", 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"NP_898871.1:p.Tyr114_Tyr392delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044224" }, { "coordinates": [ { "allele": "G", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_005248756.3:c.342T>G" ], "proteinEffect": { "hgvs": "XP_005248813.1:p.Tyr114Ter", "hgvsWellDefined": "XP_005248813.1:p.Tyr114_Asn360delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnIleTyrProHisGluArgThrSerValLysPheSerValAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058579" }, { "coordinates": [ { "allele": "G", "end": 186, "referenceAllele": "T", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_006715542.2:c.132T>G" ], "proteinEffect": { "hgvs": "XP_006715605.1:p.Tyr44Ter", "hgvsWellDefined": "XP_006715605.1:p.Tyr44_Tyr322delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071208" }, { "coordinates": [ { "allele": "G", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536023.1:c.342T>G" ], "proteinEffect": { "hgvs": "XP_011534325.1:p.Tyr114Ter", "hgvsWellDefined": "XP_011534325.1:p.Tyr114_Leu359delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnMetSerValIleGlnSerValCysAspLeuProIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103025" }, { "coordinates": [ { "allele": "G", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536024.1:c.342T>G" ], "proteinEffect": { "hgvs": "XP_011534326.1:p.Tyr114Ter", "hgvsWellDefined": "XP_011534326.1:p.Tyr114_Asp353delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103026" }, { "coordinates": [ { "allele": "G", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536025.1:c.342T>G" ], "proteinEffect": { "hgvs": "XP_011534327.1:p.Tyr114Ter", "hgvsWellDefined": "XP_011534327.1:p.Tyr114_Phe350delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103027" }, { "coordinates": [ { "allele": "G", "end": 251, "referenceAllele": "T", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536026.1:c.132T>G" ], "proteinEffect": { "hgvs": "XP_011534328.1:p.Tyr44Ter", "hgvsWellDefined": "XP_011534328.1:p.Tyr44_Tyr322delinsGlyLysAspArgValPheAsnThrProLeuCysGluGlnGlyIleValGlyPheGlyIleGlyIleAlaValThrGlyAlaThrAlaIleAlaGluIleGlnPheAlaAspTyrIlePheProAlaPheAspGlnIleValAsnGluAlaAlaLysTyrArgTyrArgSerGlyAspLeuPheAsnCysGlySerLeuThrIleArgSerProTrpGlyCysValGlyHisGlyAlaLeuTyrHisSerGlnSerProGluAlaPhePheAlaHisCysProGlyIleLysValValIleProArgSerProPheGlnAlaLysGlyLeuLeuLeuSerCysIleGluAspLysAsnProCysIlePhePheGluProLysIleLeuTyrArgAlaAlaAlaGluGluValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer" 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"end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743546.2:n.372T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS592715" }, { "coordinates": [ { "allele": "G", "end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743547.2:n.372T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS592716" }, { "coordinates": [ { "allele": "G", "end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743548.2:n.372T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS592717" }, { "coordinates": [ { "allele": "G", "end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, 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