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"NP_000009.1:p.Gln86_Phe655delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006083" }, { "@id": "http://reg.genome.network/allele/PA2825374158", "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.2:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Gln64Ter", "hgvsWellDefined": "NP_001029031.1:p.Gln64_Phe633delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "@id": "http://reg.genome.network/allele/PA2826513580", "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.325C>T" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Gln109Ter", "hgvsWellDefined": "NP_001257376.1:p.Gln109_Phe678delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "@id": "http://reg.genome.network/allele/PA2826515077", "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Gln10Ter", "hgvsWellDefined": "NP_001257377.1:p.Gln10_Phe579delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.256C>T" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Gln86Ter", "hgvsWellDefined": "XP_006721579.2:p.Gln86_Phe662delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Gln86Ter", "hgvsWellDefined": "XP_011522131.1:p.Gln86_Phe628delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Gln86Ter", "hgvsWellDefined": "XP_011522132.1:p.Gln86_Phe621delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.256C>T" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Gln86Ter", "hgvsWellDefined": "XP_006721579.2:p.Gln86_Phe662delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.256C>T" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Gln86Ter", "hgvsWellDefined": "XP_011522131.1:p.Gln86_Phe628delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.256C>T" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Gln86Ter", "hgvsWellDefined": "XP_011522132.1:p.Gln86_Phe621delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Gln86Ter", "hgvsWellDefined": "XP_024306509.1:p.Gln86_Phe651delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaGlyLysTrpProGlyValGlnGluSerLeuHisGlnGlyLeuGlnProMetAlaProLeuSerProAlaLeuSerProSerLeuLysAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA658825189", "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.256C>T" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Gln86Ter", "hgvsWellDefined": "NP_000009.1:p.Gln86_Phe655delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.256C>T" }, "RefSeq": { "hgvs": "NM_000018.4:c.256C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Gln86Ter" }, "RefSeq": { "hgvs": "NP_000009.1:p.Gln86Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825374158", "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Gln64Ter", "hgvsWellDefined": "NP_001029031.1:p.Gln64_Phe633delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "@id": "http://reg.genome.network/allele/PA2826513580", "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.325C>T" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Gln109Ter", "hgvsWellDefined": "NP_001257376.1:p.Gln109_Phe678delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "@id": "http://reg.genome.network/allele/PA2826515077", "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Gln10Ter", "hgvsWellDefined": "NP_001257377.1:p.Gln10_Phe579delinsValPheProTyrProSerValLeuAsnGluGluGlnThrGlnPheLeuLysGluLeuValGluProValSerArgPhePheGluGluValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }