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"NP_000009.1:p.Trp133_Phe655delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006083" }, { "@id": "http://reg.genome.network/allele/PA2825374221", "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.2:c.332G>A" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Trp111Ter", "hgvsWellDefined": "NP_001029031.1:p.Trp111_Phe633delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "@id": "http://reg.genome.network/allele/PA2826513771", "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.467G>A" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Trp156Ter", "hgvsWellDefined": "NP_001257376.1:p.Trp156_Phe678delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "@id": "http://reg.genome.network/allele/PA916002845", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.170G>A" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Trp57Ter", "hgvsWellDefined": "NP_001257377.1:p.Trp57_Phe579delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.398G>A" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Trp133Ter", "hgvsWellDefined": "XP_006721579.2:p.Trp133_Phe662delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.398G>A" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Trp133Ter", "hgvsWellDefined": "XP_011522131.1:p.Trp133_Phe628delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.398G>A" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Trp133Ter", "hgvsWellDefined": "XP_011522132.1:p.Trp133_Phe621delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.398G>A" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Trp133Ter", "hgvsWellDefined": "XP_006721579.2:p.Trp133_Phe662delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.398G>A" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Trp133Ter", "hgvsWellDefined": "XP_011522131.1:p.Trp133_Phe628delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.398G>A" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Trp133Ter", "hgvsWellDefined": "XP_011522132.1:p.Trp133_Phe621delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.398G>A" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Trp133Ter", "hgvsWellDefined": "XP_024306509.1:p.Trp133_Phe651delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaGlyLysTrpProGlyValGlnGluSerLeuHisGlnGlyLeuGlnProMetAlaProLeuSerProAlaLeuSerProSerLeuLysAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA658825193", "coordinates": [ { "allele": "A", "end": 445, "referenceAllele": "G", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.398G>A" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Trp133Ter", "hgvsWellDefined": "NP_000009.1:p.Trp133_Phe655delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.398G>A" }, "RefSeq": { "hgvs": "NM_000018.4:c.398G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Trp133Ter" }, "RefSeq": { "hgvs": "NP_000009.1:p.Trp133Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825374221", "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.332G>A" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Trp111Ter", "hgvsWellDefined": "NP_001029031.1:p.Trp111_Phe633delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "@id": "http://reg.genome.network/allele/PA2826513771", "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.467G>A" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Trp156Ter", "hgvsWellDefined": "NP_001257376.1:p.Trp156_Phe678delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "@id": "http://reg.genome.network/allele/PA916002845", "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.170G>A" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Trp57Ter", "hgvsWellDefined": "NP_001257377.1:p.Trp57_Phe579delinsGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }