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"NP_001029031.1:p.Gln160_Phe633delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "@id": "http://reg.genome.network/allele/PA2580177853", "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.613C>T" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Gln205Ter", "hgvsWellDefined": "NP_001257376.1:p.Gln205_Phe678delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "@id": "http://reg.genome.network/allele/PA2826515421", "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Gln106Ter", "hgvsWellDefined": "NP_001257377.1:p.Gln106_Phe579delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.544C>T" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Gln182Ter", "hgvsWellDefined": "XP_006721579.2:p.Gln182_Phe662delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Gln182Ter", "hgvsWellDefined": "XP_011522131.1:p.Gln182_Phe628delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Gln182Ter", "hgvsWellDefined": "XP_011522132.1:p.Gln182_Phe621delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.544C>T" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Gln182Ter", "hgvsWellDefined": "XP_006721579.2:p.Gln182_Phe662delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Gln182Ter", "hgvsWellDefined": "XP_011522131.1:p.Gln182_Phe628delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Gln182Ter", "hgvsWellDefined": "XP_011522132.1:p.Gln182_Phe621delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Gln182Ter", "hgvsWellDefined": "XP_024306509.1:p.Gln182_Phe651delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaGlyLysTrpProGlyValGlnGluSerLeuHisGlnGlyLeuGlnProMetAlaProLeuSerProAlaLeuSerProSerLeuLysAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.603C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.603C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.603C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA2825003758", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.544C>T" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Gln182Ter", "hgvsWellDefined": "NP_000009.1:p.Gln182_Phe655delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.544C>T" }, "RefSeq": { "hgvs": "NM_000018.4:c.544C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Gln182Ter" }, "RefSeq": { "hgvs": "NP_000009.1:p.Gln182Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825374321", "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Gln160Ter", "hgvsWellDefined": "NP_001029031.1:p.Gln160_Phe633delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "@id": "http://reg.genome.network/allele/PA2580177853", "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.613C>T" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Gln205Ter", "hgvsWellDefined": "NP_001257376.1:p.Gln205_Phe678delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "@id": "http://reg.genome.network/allele/PA2826515421", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Gln106Ter", "hgvsWellDefined": "NP_001257377.1:p.Gln106_Phe579delinsSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }