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"NP_000009.1:p.Ser52_Phe655delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006083" }, { "coordinates": [ { "allele": "G", "end": 292, "endIntronDirection": "-", "endIntronOffset": 123, "referenceAllele": "C", "start": 292, "startIntronDirection": "-", "startIntronOffset": 124 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.2:c.139-124C>G" ], "proteinEffect": { "hgvs": "NP_001029031.1:n.139-124C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "@id": "http://reg.genome.network/allele/PA1139688705", "coordinates": [ { "allele": "G", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.224C>G" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Ser75Ter", "hgvsWellDefined": "NP_001257376.1:p.Ser75_Phe678delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "coordinates": [ { "allele": "G", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.-74C>G" ], "proteinEffect": { "hgvs": "NP_001257377.1:n.-74C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.155C>G" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Ser52Ter", "hgvsWellDefined": "XP_006721579.2:p.Ser52_Phe662delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.155C>G" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Ser52Ter", "hgvsWellDefined": "XP_011522131.1:p.Ser52_Phe628delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.155C>G" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Ser52Ter", "hgvsWellDefined": "XP_011522132.1:p.Ser52_Phe621delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.262C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.262C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "G", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.262C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.155C>G" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Ser52Ter", "hgvsWellDefined": "XP_006721579.2:p.Ser52_Phe662delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.155C>G" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Ser52Ter", "hgvsWellDefined": "XP_011522131.1:p.Ser52_Phe628delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.155C>G" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Ser52Ter", "hgvsWellDefined": "XP_011522132.1:p.Ser52_Phe621delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.155C>G" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Ser52Ter", "hgvsWellDefined": "XP_024306509.1:p.Ser52_Phe651delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaGlyLysTrpProGlyValGlnGluSerLeuHisGlnGlyLeuGlnProMetAlaProLeuSerProAlaLeuSerProSerLeuLysAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.214C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.214C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.214C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA2825003584", "coordinates": [ { "allele": "G", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.155C>G" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Ser52Ter", "hgvsWellDefined": "NP_000009.1:p.Ser52_Phe655delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.155C>G" }, "RefSeq": { "hgvs": "NM_000018.4:c.155C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Ser52Ter" }, "RefSeq": { "hgvs": "NP_000009.1:p.Ser52Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 185, "endIntronDirection": "-", "endIntronOffset": 123, "referenceAllele": "C", "start": 185, "startIntronDirection": "-", "startIntronOffset": 124 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.139-124C>G" ], "proteinEffect": { "hgvs": "NP_001029031.1:n.139-124C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "@id": "http://reg.genome.network/allele/PA1139688705", "coordinates": [ { "allele": "G", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.224C>G" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Ser75Ter", "hgvsWellDefined": "NP_001257376.1:p.Ser75_Phe678delinsAspSerHisProSerAspAlaLeuThrArgLysLysProAlaLysAlaGluSerLysSerPheAlaValGlyMetPheLysGlyGlnLeuThrThrAspGlnValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "coordinates": [ { "allele": "G", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.-74C>G" ], "proteinEffect": { "hgvs": "NP_001257377.1:n.-74C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }