{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7673866", "communityStandardTitle": [ "NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643553[alleleid]", "alleleId": 643553, "preferredName": "NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/666198", "RCV": [ "RCV000824641", "RCV001564261", "RCV002538204" ], "variationId": 666198 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-76588066-G-A", "id": "15-76588066-G-A", "variant": "15:76588066 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.76588066G>A?assembly=hg19", "id": "chr15:g.76588066G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.76295725G>A?assembly=hg38", "id": "chr15:g.76295725G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/754202690", "rs": 754202690 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-76588066-G-A?dataset=gnomad_r2_1", "id": "15-76588066-G-A", "variant": "15:76588066 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-76295725-G-A?dataset=gnomad_r3", "id": "15-76295725-G-A", "variant": "15:76295725 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-76295725-G-A?dataset=gnomad_r4", "id": "15-76295725-G-A", "variant": "15:76295725 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 76295725, "referenceAllele": "G", "start": 76295724 } ], "hgvs": [ "NC_000015.10:g.76295725G>A", "CM000677.2:g.76295725G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 76588066, "referenceAllele": "G", "start": 76588065 } ], "hgvs": [ 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"ENSP00000452777.2:p.Arg18_Ser301delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826069" }, { "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000560044.6:c.*47C>T" ], "proteinEffect": { "hgvs": "ENSP00000452942.1:n.*47C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826072" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000560595.6:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000453345.2:p.Arg18Ter", "hgvsWellDefined": "ENSP00000453345.2:p.Arg18_Lys406delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerArgValAlaGlyIleThrValGluThrGluValLeuHisValGlyGlnAlaGlyLeuGluIleLeuThrSerGlyAspProProThrSerAlaSerGlnSerValGlyIleThrGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826077" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000565910.6:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000458001.2:p.Arg18Ter", "hgvsWellDefined": "ENSP00000458001.2:p.Arg18_Leu318delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysLeuProGlyLeuTyrHisValProIleLeuAspIleLeuAlaSerSerAlaHisLeuSerGluGluProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826116" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685118.1:c.*47C>T" ], "proteinEffect": { "hgvs": "ENSP00000509473.1:n.*47C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829890" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685548.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000510343.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000510343.1:p.Arg18_Leu324delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830136" }, { "coordinates": [ { "allele": "T", "end": 120, "endIntronDirection": "-", "endIntronOffset": 3024, "referenceAllele": "C", "start": 120, "startIntronDirection": "-", "startIntronOffset": 3025 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685863.1:c.40-3025C>T" ], "proteinEffect": { "hgvs": "ENSP00000509361.1:n.40-3025C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830283" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000687293.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000509928.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000509928.1:p.Arg18_Lys358delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831019" }, { "coordinates": [ { "allele": "T", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000687975.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000508690.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000508690.1:p.Arg18_Leu81delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysMetGluPheHisSerPheAlaGlnSerGlyValLysTrpCysAspLeuGlySerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831364" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000688154.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000510637.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000510637.1:p.Arg18_Leu324delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831467" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000688389.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000510491.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000510491.1:p.Arg18_Lys310delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831601" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000688637.1:n.133C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831738" }, { "coordinates": [ { "allele": "T", "end": 43, "endIntronDirection": "-", "endIntronOffset": 3024, "referenceAllele": "C", "start": 43, "startIntronDirection": "-", "startIntronOffset": 3025 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000688908.1:c.40-3025C>T" ], "proteinEffect": { "hgvs": "ENSP00000510242.1:n.40-3025C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS831884" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000689730.1:c.52C>T" ], "proteinEffect": { "hgvs": "ENSP00000510006.1:p.Arg18Ter", "hgvsWellDefined": "ENSP00000510006.1:p.Arg18_Lys327delinsPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer" }, "referenceSequence": 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