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"XP_024306420.1:p.Lys69_Tyr292delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584186" }, { "@id": "http://reg.genome.network/allele/PA2825163295", "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.3:c.784A>T" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Lys262Ter", "hgvsWellDefined": "NP_000373.1:p.Lys262_Tyr485delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.784A>T" }, "RefSeq": { "hgvs": "NM_000382.3:c.784A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Lys262Ter" }, "RefSeq": { "hgvs": "NP_000373.1:p.Lys262Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356221", "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.2:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Lys262Ter", "hgvsWellDefined": "NP_001026976.1:p.Lys262_Arg508delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675748" }, { "@id": "http://reg.genome.network/allele/PA2828312917", "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356065.1:p.Lys262_Arg508delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691563" }, { "@id": "http://reg.genome.network/allele/PA2828313227", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356066.1:p.Lys262_Arg508delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313535", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356067.1:p.Lys262_Tyr485delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313846", "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356068.1:p.Lys262_Tyr485delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691566" }, { "@id": "http://reg.genome.network/allele/PA2828314187", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356075.1:p.Lys262_Phe424delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "@id": "http://reg.genome.network/allele/PA1139742309", "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.205A>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Lys69Ter", "hgvsWellDefined": "NP_001356077.1:p.Lys69_Tyr292delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313227", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "A", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356066.1:p.Lys262_Arg508delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313535", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "A", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356067.1:p.Lys262_Tyr485delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA2828314187", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "A", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.784A>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Lys262Ter", "hgvsWellDefined": "NP_001356075.1:p.Lys262_Phe424delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "@id": "http://reg.genome.network/allele/PA1139742309", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.205A>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Lys69Ter", "hgvsWellDefined": "NP_001356077.1:p.Lys69_Tyr292delinsGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }