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], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024358.2:c.652A>T" ], "proteinEffect": { "hgvs": "XP_016879847.1:p.Lys218Ter", "hgvsWellDefined": "XP_016879847.1:p.Lys218_Phe424delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574937" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "A", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_024450651.1:c.73A>T" ], "proteinEffect": { "hgvs": "XP_024306419.1:p.Lys25Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828312888", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "A", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Lys218Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2828313197", "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "A", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356066.1:p.Lys218_Arg508delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313506", "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "A", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356067.1:p.Lys218_Tyr485delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313817", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "A", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Lys218Ter", "hgvsWellDefined": 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"T", "end": 805, "referenceAllele": "A", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356075.1:p.Lys218_Phe424delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "@id": "http://reg.genome.network/allele/PA1139742307", "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.73A>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Lys25Ter", "hgvsWellDefined": "NP_001356077.1:p.Lys25_Tyr292delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313197", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356066.1:p.Lys218_Arg508delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313506", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356067.1:p.Lys218_Tyr485delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA2828314158", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.652A>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Lys218Ter", "hgvsWellDefined": "NP_001356075.1:p.Lys218_Phe424delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "@id": "http://reg.genome.network/allele/PA1139742307", "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.73A>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Lys25Ter", "hgvsWellDefined": "NP_001356077.1:p.Lys25_Tyr292delinsAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }