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"ENSP00000506899.1:p.Glu144_Glu374delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829505" }, { "coordinates": [ { "allele": "T", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684611.1:n.2158G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829563" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684622.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000507546.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000507546.1:p.Glu144_Met618delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrTrpGlySerTrpAsnLeuSerProValAsnGluArgMetThrValAsnLysGlyGlyLeuArgGlyCysValGluLeuLysHisSerValSerSerThrLeuAspSerGluThrThrGlnLeuAsnThrAlaValProProPheIleMetTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829574" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684627.1:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000507471.1:p.Glu83Ter", "hgvsWellDefined": "ENSP00000507471.1:p.Glu83_Met556delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000507642.1:p.Glu144_Met522delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Glu144_Tyr397delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "G", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.499G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Glu144_Met617delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.430G>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.430G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Glu144Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Glu144Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "G", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.289G>T" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:p.Glu97Ter", "hgvsWellDefined": "ENSP00000303552.5:p.Glu97_Met570delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "T", "end": 86, "endIntronDirection": "+", "endIntronOffset": 12126, "referenceAllele": "G", "start": 86, "startIntronDirection": "+", "startIntronOffset": 12125 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.86+12126G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.-66G>T" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:n.-66G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Glu144_Met617delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000514148.1:n.508G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343704" }, { "@id": "http://reg.genome.network/allele/PA2741850558", "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.289G>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Glu97Ter", "hgvsWellDefined": "NP_001268666.1:p.Glu97_Met570delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA2826594295", "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "G", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281738.1:c.247G>T" ], "proteinEffect": { "hgvs": "NP_001268667.1:p.Glu83Ter", "hgvsWellDefined": "NP_001268667.1:p.Glu83_Met556delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021702" }, { "@id": "http://reg.genome.network/allele/PA2829519109", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "G", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Glu144Ter", "hgvsWellDefined": "NP_004444.2:p.Glu144_Met617delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.247G>T" ], "proteinEffect": { "hgvs": "XP_024309703.1:p.Glu83Ter", "hgvsWellDefined": "XP_024309703.1:p.Glu83_Met556delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA2829519109", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Glu144Ter", "hgvsWellDefined": "NP_004444.2:p.Glu144_Met617delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.430G>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.430G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Glu144Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Glu144Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741850558", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.289G>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Glu97Ter", "hgvsWellDefined": "NP_001268666.1:p.Glu97_Met570delinsAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }