{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364200299", "communityStandardTitle": [ "NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590361[alleleid]", "alleleId": 590361, "preferredName": "NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599184", "RCV": [ "RCV000778114" ], "variationId": 599184 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43008774G>A?assembly=hg19", "id": "chr6:g.43008774G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43041036G>A?assembly=hg38", "id": "chr6:g.43041036G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1561875767", "rs": 1561875767 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43041036, 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"ENSP00000501166.2:p.Gln1229_Ser1548delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAspSerArgTrpGlnGlnGlyThrGlnValGluMetGlyHisCysAlaAlaHisProThrSerAspValProAlaSerTer" 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"ENSP00000509364.1:n.*1982C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "T", "end": 3968, "referenceAllele": "C", "start": 3967 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.3968C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "T", "end": 4262, "referenceAllele": "C", "start": 4261 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000689256.1:n.4262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832076" }, { "coordinates": [ { "allele": "T", "end": 3885, "referenceAllele": "C", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000690231.1:c.3685C>T" ], "proteinEffect": { "hgvs": "ENSP00000508461.1:p.Gln1229Ter", "hgvsWellDefined": "ENSP00000508461.1:p.Gln1229_Arg1698delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "T", "end": 3923, "referenceAllele": "C", "start": 3922 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.3685C>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Gln1229Ter", "hgvsWellDefined": "ENSP00000265348.4:p.Gln1229_Arg1698delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.3685C>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.3685C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Gln1229Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Gln1229Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673725.1:c.1556C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773819" }, { "coordinates": [ { "allele": "T", "end": 4524, "referenceAllele": "C", "start": 4523 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.4524C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "T", "end": 4111, "referenceAllele": "C", "start": 4110 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.3781C>T" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Gln1261Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774119" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.1:c.2177C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774131" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674134.1:c.3781C>T" ], "proteinEffect": { "hgvs": "ENSP00000501068.1:p.Gln1261Ter", "hgvsWellDefined": "ENSP00000501068.1:p.Gln1261_Arg1730delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "T", "end": 3771, "referenceAllele": "C", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.3685C>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Gln1229Ter", "hgvsWellDefined": "ENSP00000265348.3:p.Gln1229_Arg1698delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-1092G>A" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-1092G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "T", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.3937C>T" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Gln1313Ter", "hgvsWellDefined": "ENSP00000438788.1:p.Gln1313_Arg1782delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "@id": "http://reg.genome.network/allele/PA915990472", "coordinates": [ { "allele": "T", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.3937C>T" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Gln1313Ter", "hgvsWellDefined": "NP_001161842.1:p.Gln1313_Arg1782delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA913193761", "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "C", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.3685C>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Gln1229Ter", "hgvsWellDefined": "NP_055595.2:p.Gln1229_Arg1698delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "T", "end": 3877, "referenceAllele": "C", "start": 3876 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.3841C>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Gln1281Ter", "hgvsWellDefined": "XP_005249560.1:p.Gln1281_Arg1750delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "T", "end": 4118, "referenceAllele": "C", "start": 4117 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.3781C>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Gln1261Ter", "hgvsWellDefined": "XP_006715348.1:p.Gln1261_Arg1734delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "T", "end": 3973, "referenceAllele": "C", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.3937C>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Gln1313Ter", "hgvsWellDefined": "XP_011513321.1:p.Gln1313_Arg1786delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "T", "end": 3877, "referenceAllele": "C", "start": 3876 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.3841C>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Gln1281Ter", "hgvsWellDefined": "XP_011513322.1:p.Gln1281_Arg1754delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515021.1:c.1546C>T" ], "proteinEffect": { "hgvs": "XP_011513323.1:p.Gln516Ter", "hgvsWellDefined": "XP_011513323.1:p.Gln516_Arg989delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082241" }, { "coordinates": [ { "allele": "T", "end": 3879, "referenceAllele": "C", "start": 3878 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.3841C>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Gln1281Ter", "hgvsWellDefined": "XP_005249560.1:p.Gln1281_Arg1750delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "T", "end": 4113, "referenceAllele": "C", "start": 4112 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.3781C>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Gln1261Ter", "hgvsWellDefined": "XP_006715348.1:p.Gln1261_Arg1734delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "T", "end": 3975, "referenceAllele": "C", "start": 3974 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.3937C>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Gln1313Ter", "hgvsWellDefined": "XP_011513321.1:p.Gln1313_Arg1786delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "T", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.3841C>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Gln1281Ter", "hgvsWellDefined": "XP_011513322.1:p.Gln1281_Arg1754delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "T", "end": 4003, "referenceAllele": "C", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.3964C>T" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Gln1322Ter", "hgvsWellDefined": "XP_016867022.1:p.Gln1322_Arg1795delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.3964C>T" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Gln1322Ter", "hgvsWellDefined": "XP_016867023.1:p.Gln1322_Arg1791delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "T", "end": 3906, "referenceAllele": "C", "start": 3905 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.3868C>T" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Gln1290Ter", "hgvsWellDefined": "XP_016867024.1:p.Gln1290_Arg1763delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "T", "end": 4140, "referenceAllele": "C", "start": 4139 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.3808C>T" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Gln1270Ter", "hgvsWellDefined": "XP_016867025.1:p.Gln1270_Arg1743delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "T", "end": 4113, "referenceAllele": "C", "start": 4112 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.3781C>T" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Gln1261Ter", "hgvsWellDefined": "XP_016867026.1:p.Gln1261_Arg1730delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.3712C>T" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Gln1238Ter", "hgvsWellDefined": "XP_016867027.1:p.Gln1238_Arg1711delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "C", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.3685C>T" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Gln1229Ter", "hgvsWellDefined": "XP_016867028.1:p.Gln1229_Arg1702delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "@id": "http://reg.genome.network/allele/PA2826055774", "coordinates": [ { "allele": "T", "end": 3930, "referenceAllele": "C", "start": 3929 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.3781C>T" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Gln1261Ter", "hgvsWellDefined": "NP_001161842.2:p.Gln1261_Arg1730delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2573073504", "coordinates": [ { "allele": "T", "end": 4019, "referenceAllele": "C", "start": 4018 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.3781C>T" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Gln1261Ter", "hgvsWellDefined": "NP_001361801.1:p.Gln1261_Arg1730delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828563313", "coordinates": [ { "allele": "T", "end": 3923, "referenceAllele": "C", "start": 3922 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.3685C>T" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Gln1229Ter", "hgvsWellDefined": "NP_001361802.1:p.Gln1229_Arg1702delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563869", "coordinates": [ { "allele": "T", "end": 3920, "referenceAllele": "C", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.3682C>T" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Gln1228Ter", "hgvsWellDefined": "NP_001361803.1:p.Gln1228_Arg1697delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA913193761", "coordinates": [ { "allele": "T", "end": 3923, "referenceAllele": "C", "start": 3922 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.3685C>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Gln1229Ter", "hgvsWellDefined": "NP_055595.2:p.Gln1229_Arg1698delinsGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.3685C>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.3685C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Gln1229Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Gln1229Ter" } } } } ], "type": "nucleotide" }