{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364208599", "communityStandardTitle": [ "NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=816463[alleleid]", "alleleId": 816463, "preferredName": "NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/828132", "RCV": [ "RCV001028003" ], "variationId": 828132 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43013015C>T?assembly=hg19", "id": "chr6:g.43013015C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43045277C>T?assembly=hg38", "id": "chr6:g.43045277C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1581930130", "rs": 1581930130 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43045277, 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"http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000686442.1:n.3549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830576" }, { "coordinates": [ { "allele": "A", "end": 3827, "referenceAllele": "G", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000687225.1:c.*1285G>A" ], "proteinEffect": { "hgvs": "ENSP00000509364.1:n.*1285G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "A", "end": 3271, "referenceAllele": "G", "start": 3270 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.3271G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "A", "end": 3565, "referenceAllele": "G", "start": 3564 } ], "gene": "http://reg.genome.network/gene/GN021024", 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"ENSP00000508461.1:p.Trp996_Arg1698delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "A", "end": 3226, "referenceAllele": "G", "start": 3225 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.2988G>A" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Trp996Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2988G>A" }, "RefSeq": { "hgvs": "NM_014780.5:c.2988G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Trp996Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Trp996Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673725.1:c.937G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773819" }, { "coordinates": [ { "allele": "A", "end": 3827, "referenceAllele": "G", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.3827G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "A", "end": 3414, "referenceAllele": "G", "start": 3413 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.3084G>A" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Trp1028Ter", "hgvsWellDefined": 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"ENSP00000501068.1:p.Trp1028_Arg1730delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "A", "end": 3074, "referenceAllele": "G", "start": 3073 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.2988G>A" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Trp996Ter", "hgvsWellDefined": "ENSP00000265348.3:p.Trp996_Arg1698delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "T", "end": 799, "endIntronDirection": "+", "endIntronOffset": 1769, "referenceAllele": "C", "start": 799, "startIntronDirection": "+", "startIntronOffset": 1768 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-553+1769C>T" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-553+1769C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "A", "end": 3327, "referenceAllele": "G", "start": 3326 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.3240G>A" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Trp1080Ter", "hgvsWellDefined": "ENSP00000438788.1:p.Trp1080_Arg1782delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "coordinates": [ { "allele": "A", "end": 3327, "referenceAllele": "G", "start": 3326 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.3240G>A" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Trp1080Ter", "hgvsWellDefined": "NP_001161842.1:p.Trp1080_Arg1782delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA915967252", "coordinates": [ { "allele": "A", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.2988G>A" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Trp996Ter", "hgvsWellDefined": "NP_055595.2:p.Trp996_Arg1698delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "A", "end": 3180, "referenceAllele": "G", "start": 3179 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.3144G>A" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Trp1048Ter", "hgvsWellDefined": "XP_005249560.1:p.Trp1048_Arg1750delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "A", "end": 3421, "referenceAllele": "G", "start": 3420 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.3084G>A" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Trp1028Ter", "hgvsWellDefined": "XP_006715348.1:p.Trp1028_Arg1734delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "A", "end": 3276, "referenceAllele": "G", "start": 3275 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.3240G>A" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Trp1080Ter", "hgvsWellDefined": "XP_011513321.1:p.Trp1080_Arg1786delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "A", "end": 3180, "referenceAllele": "G", "start": 3179 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.3144G>A" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Trp1048Ter", "hgvsWellDefined": "XP_011513322.1:p.Trp1048_Arg1754delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "A", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515021.1:c.849G>A" ], "proteinEffect": { "hgvs": "XP_011513323.1:p.Trp283Ter", "hgvsWellDefined": "XP_011513323.1:p.Trp283_Arg989delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082241" }, { "coordinates": [ { "allele": "A", "end": 3182, "referenceAllele": "G", "start": 3181 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.3144G>A" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Trp1048Ter", "hgvsWellDefined": "XP_005249560.1:p.Trp1048_Arg1750delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "A", "end": 3416, "referenceAllele": "G", "start": 3415 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.3084G>A" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Trp1028Ter", "hgvsWellDefined": "XP_006715348.1:p.Trp1028_Arg1734delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "A", "end": 3278, "referenceAllele": "G", "start": 3277 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.3240G>A" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Trp1080Ter", "hgvsWellDefined": "XP_011513321.1:p.Trp1080_Arg1786delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.3144G>A" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Trp1048Ter", "hgvsWellDefined": "XP_011513322.1:p.Trp1048_Arg1754delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "A", "end": 3306, "referenceAllele": "G", "start": 3305 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.3267G>A" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Trp1089Ter", "hgvsWellDefined": "XP_016867022.1:p.Trp1089_Arg1795delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "A", "end": 3305, "referenceAllele": "G", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.3267G>A" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Trp1089Ter", "hgvsWellDefined": "XP_016867023.1:p.Trp1089_Arg1791delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "A", "end": 3209, "referenceAllele": "G", "start": 3208 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.3171G>A" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Trp1057Ter", "hgvsWellDefined": "XP_016867024.1:p.Trp1057_Arg1763delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "A", "end": 3443, "referenceAllele": "G", "start": 3442 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.3111G>A" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Trp1037Ter", "hgvsWellDefined": "XP_016867025.1:p.Trp1037_Arg1743delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "A", "end": 3416, "referenceAllele": "G", "start": 3415 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.3084G>A" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Trp1028Ter", "hgvsWellDefined": "XP_016867026.1:p.Trp1028_Arg1730delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "A", "end": 3347, "referenceAllele": "G", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.3015G>A" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Trp1005Ter", "hgvsWellDefined": "XP_016867027.1:p.Trp1005_Arg1711delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "A", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.2988G>A" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Trp996Ter", "hgvsWellDefined": "XP_016867028.1:p.Trp996_Arg1702delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "@id": "http://reg.genome.network/allele/PA2826055704", "coordinates": [ { "allele": "A", "end": 3233, "referenceAllele": "G", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.3084G>A" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Trp1028Ter", "hgvsWellDefined": "NP_001161842.2:p.Trp1028_Arg1730delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2828562834", "coordinates": [ { "allele": "A", "end": 3322, "referenceAllele": "G", "start": 3321 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.3084G>A" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Trp1028Ter", "hgvsWellDefined": "NP_001361801.1:p.Trp1028_Arg1730delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828563243", "coordinates": [ { "allele": "A", "end": 3226, "referenceAllele": "G", "start": 3225 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.2988G>A" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Trp996Ter", "hgvsWellDefined": "NP_001361802.1:p.Trp996_Arg1702delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563799", "coordinates": [ { "allele": "A", "end": 3226, "referenceAllele": "G", "start": 3225 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.2988G>A" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Trp996Ter", "hgvsWellDefined": "NP_001361803.1:p.Trp996_Arg1697delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA915967252", "coordinates": [ { "allele": "A", "end": 3226, "referenceAllele": "G", "start": 3225 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.2988G>A" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Trp996Ter", "hgvsWellDefined": "NP_055595.2:p.Trp996_Arg1698delinsSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2988G>A" }, "RefSeq": { "hgvs": "NM_014780.5:c.2988G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Trp996Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Trp996Ter" } } } } ], "type": "nucleotide" }