{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273700384", "communityStandardTitle": [ "NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=701813", "active": true, "id": "COSM701813" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1458348[alleleid]", "alleleId": 1458348, "preferredName": "NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1456409", "RCV": [ "RCV001951135" ], "variationId": 1456409 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.76588074G>T?assembly=hg19", "id": "chr15:g.76588074G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.76295733G>T?assembly=hg38", "id": "chr15:g.76295733G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1047426224", "rs": 1047426224 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-76588074-G-T?dataset=gnomad_r2_1", "id": "15-76588074-G-T", "variant": "15:76588074 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-76295733-G-T?dataset=gnomad_r4", "id": "15-76295733-G-T", "variant": "15:76295733 G / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 76295733, "referenceAllele": "G", "start": 76295732 } ], "hgvs": [ "NC_000015.10:g.76295733G>T", "CM000677.2:g.76295733G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 76588074, "referenceAllele": "G", "start": 76588073 } ], "hgvs": [ "NC_000015.9:g.76588074G>T", "CM000677.1:g.76588074G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 74375129, "referenceAllele": "G", "start": 74375128 } ], "hgvs": [ "NC_000015.8:g.74375129G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 20737, "referenceAllele": "C", "start": 20736 } ], "hgvs": [ "NG_007077.2:g.20737C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000457" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "C", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000559386.2:c.44C>A" ], "proteinEffect": { "hgvs": "ENSP00000452777.2:p.Ser15Ter", "hgvsWellDefined": "ENSP00000452777.2:p.Ser15_Ser301delinsLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826069" }, { "coordinates": [ { 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"ENSP00000453345.2:p.Ser15_Lys406delinsLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyAspGlyValSerLeuLeuLeuProArgLeuGluCysAsnGlyThrIleSerAlaHisArgHisLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerArgValAlaGlyIleThrValGluThrGluValLeuHisValGlyGlnAlaGlyLeuGluIleLeuThrSerGlyAspProProThrSerAlaSerGlnSerValGlyIleThrGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer" 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"ENSP00000458001.2:p.Ser15_Leu318delinsLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysLeuProGlyLeuTyrHisValProIleLeuAspIleLeuAlaSerSerAlaHisLeuSerGluGluProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826116" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685118.1:c.*39C>A" ], "proteinEffect": { "hgvs": "ENSP00000509473.1:n.*39C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829890" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685548.1:c.44C>A" ], "proteinEffect": { "hgvs": "ENSP00000510343.1:p.Ser15Ter", "hgvsWellDefined": "ENSP00000510343.1:p.Ser15_Leu324delinsLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830136" }, { "coordinates": [ { "allele": "A", "end": 120, "endIntronDirection": "-", "endIntronOffset": 3032, "referenceAllele": "C", "start": 120, "startIntronDirection": "-", "startIntronOffset": 3033 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000685863.1:c.40-3033C>A" ], "proteinEffect": { "hgvs": "ENSP00000509361.1:n.40-3033C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830283" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN003481", "geneNCBI_id": 2108, "geneSymbol": "ETFA", "hgvs": [ "ENST00000687293.1:c.44C>A" ], "proteinEffect": { "hgvs": "ENSP00000509928.1:p.Ser15Ter", "hgvsWellDefined": 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"ENSP00000510637.1:p.Ser15_Leu324delinsLeuLeuArgPheGlnSerThrLeuValIleAlaGluHisAlaAsnAspSerLeuAlaProIleThrLeuAsnThrIleThrAlaAlaThrArgLeuGlyGlyGluValSerCysLeuValAlaGlyThrLysCysAspLysValAlaGlnAspLeuCysLysValAlaGlyIleAlaLysValLeuValAlaGlnHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer" }, "referenceSequence": 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