{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358573406", "communityStandardTitle": [ "NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834389[alleleid]", "alleleId": 2834389, "preferredName": "NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675116", "RCV": [ "RCV003476378" ], "variationId": 2675116 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.159601688C>A?assembly=hg19", "id": "chr4:g.159601688C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.158680536C>A?assembly=hg38", "id": "chr4:g.158680536C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2479076127", "rs": 2479076127 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-158680536-C-A?dataset=gnomad_r4", "id": "4-158680536-C-A", "variant": "4:158680536 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 158680536, "referenceAllele": "C", "start": 158680535 } ], "hgvs": [ "NC_000004.12:g.158680536C>A", "CM000666.2:g.158680536C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 159601688, "referenceAllele": "C", "start": 159601687 } ], "hgvs": [ "NC_000004.11:g.159601688C>A", "CM000666.1:g.159601688C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 159821138, "referenceAllele": "C", "start": 159821137 } ], "hgvs": [ "NC_000004.10:g.159821138C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 13195, "referenceAllele": "C", "start": 13194 } ], "hgvs": [ "NG_007078.2:g.13195C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000458" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000436096.3:n.355C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824879" }, { "coordinates": [ { "allele": "A", "end": 178, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 178, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.6:n.179-4056C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825530" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000681978.1:n.353C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826978" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682178.1:n.129C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827175" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682345.1:c.43C>A" ], "proteinEffect": { "hgvs": "ENSP00000508122.1:p.Gln15Lys", "hgvsWellDefined": "ENSP00000508122.1:p.Gln15Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827337" }, { "coordinates": [ { "allele": "A", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682409.1:n.213C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827401" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682452.1:n.435C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827442" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682456.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000508240.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000508240.1:p.Ser35_Met570delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827446" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682601.1:n.295C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827591" }, { "coordinates": [ { "allele": "A", "end": 237, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 237, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682734.1:c.-649-4056C>A" ], "proteinEffect": { "hgvs": "ENSP00000507860.1:n.-649-4056C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827723" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "C", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682820.1:n.141C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827808" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000682910.1:n.411C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827898" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683004.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000506936.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000506936.1:p.Ser35_Leu68delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluValThrHisGlnGluGlnLeuProValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827991" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683079.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507296.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507296.1:p.Ser35_Ser166delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828064" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "C", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683081.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507722.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507722.1:p.Ser35_Leu68delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluValThrHisGlnGluGlnLeuProValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828066" }, { "coordinates": [ { "allele": "A", "end": 184, "endIntronDirection": "-", "endIntronOffset": 1034, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 1035 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683305.1:c.-52-1035C>A" ], "proteinEffect": { "hgvs": "ENSP00000508043.1:n.-52-1035C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828286" }, { "coordinates": [ { "allele": "A", "end": 162, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 162, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683448.1:c.-90-4056C>A" ], "proteinEffect": { "hgvs": "ENSP00000506931.1:n.-90-4056C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828425" }, { "coordinates": [ { "allele": "A", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683478.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507793.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507793.1:p.Ser35_Ser166delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828453" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683483.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507719.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507719.1:p.Ser35_Met569delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828457" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "C", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683750.1:n.227C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828721" }, { "coordinates": [ { "allele": "A", "end": 184, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683751.1:c.-90-4056C>A" ], "proteinEffect": { "hgvs": "ENSP00000506944.1:n.-90-4056C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828722" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000683799.1:n.413C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828769" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684036.1:c.-80C>A" ], "proteinEffect": { "hgvs": "ENSP00000507276.1:n.-80C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828997" }, { "coordinates": [ { "allele": "A", "end": 159, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 159, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684129.1:c.-694-4056C>A" ], "proteinEffect": { "hgvs": "ENSP00000507174.1:n.-694-4056C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829087" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684209.1:n.344C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829166" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684296.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507740.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507740.1:p.Ser35_Glu374delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829252" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684505.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000508237.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000508237.1:p.Ser35_Met600delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829459" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684552.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000506899.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000506899.1:p.Ser35_Glu374delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829505" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684611.1:n.245C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829563" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684622.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507546.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507546.1:p.Ser35_Met618delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrTrpGlySerTrpAsnLeuSerProValAsnGluArgMetThrValAsnLysGlyGlyLeuArgGlyCysValGluLeuLysHisSerValSerSerThrLeuAspSerGluThrThrGlnLeuAsnThrAlaValProProPheIleMetTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829574" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684627.1:c.-80C>A" ], "proteinEffect": { "hgvs": "ENSP00000507471.1:n.-80C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000507642.1:p.Ser35_Met522delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Ser35_Tyr397delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.129C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Ser35_Met617delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.104C>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.104C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Ser35Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Ser35Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 152, "endIntronDirection": "-", "endIntronOffset": 1658, "referenceAllele": "C", "start": 152, "startIntronDirection": "-", "startIntronOffset": 1659 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.35-1659C>A" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:n.35-1659C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000436096.2:n.245C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS293811" }, { "coordinates": [ { "allele": "A", "end": 86, "endIntronDirection": "+", "endIntronOffset": 8046, "referenceAllele": "C", "start": 86, "startIntronDirection": "+", "startIntronOffset": 8045 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.86+8046C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "A", "end": 184, "endIntronDirection": "-", "endIntronOffset": 4055, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 4056 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.-90-4056C>A" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:n.-90-4056C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Ser35Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Ser35_Met617delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000512251.5:c.43C>A" ], "proteinEffect": { "hgvs": "ENSP00000425661.1:p.Gln15Lys", "hgvsWellDefined": "ENSP00000425661.1:p.Gln15Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS342324" }, { "coordinates": [ { "allele": "A", "end": 390, "endIntronDirection": "-", "endIntronOffset": 1658, "referenceAllele": "C", "start": 390, "startIntronDirection": "-", "startIntronOffset": 1659 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.35-1659C>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:n.35-1659C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA2741911684", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.104C>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Ser35Ter", "hgvsWellDefined": "NP_004444.2:p.Ser35_Met617delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "A", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.-80C>A" ], "proteinEffect": { "hgvs": "XP_024309703.1:n.-80C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA2741911684", "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.104C>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Ser35Ter", "hgvsWellDefined": "NP_004444.2:p.Ser35_Met617delinsThrSerThrValProArgIleThrThrHisTyrThrIleTyrProArgAspLysAspLysArgTrpGluGlyValAsnMetGluArgPheAlaGluGluAlaAspValValIleValGlyAlaGlyProAlaGlyLeuSerAlaAlaValArgLeuLysGlnLeuAlaValAlaHisGluLysAspIleArgValCysLeuValGluLysAlaAlaGlnIleGlyAlaHisThrLeuSerGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.104C>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.104C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Ser35Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Ser35Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 195, "endIntronDirection": "-", "endIntronOffset": 1658, "referenceAllele": "C", "start": 195, "startIntronDirection": "-", "startIntronOffset": 1659 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.35-1659C>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:n.35-1659C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }