{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236446", "communityStandardTitle": [ "NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132701[alleleid]", "alleleId": 132701, "preferredName": "NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127244", "RCV": [ "RCV000115042", "RCV000171523" ], "variationId": 127244 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43014042A>C?assembly=hg19", "id": "chr6:g.43014042A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43046304A>C?assembly=hg38", "id": "chr6:g.43046304A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201406974", "rs": 201406974 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 43046304, "referenceAllele": "A", "start": 43046303 } ], "hgvs": [ "NC_000006.12:g.43046304A>C", "CM000668.2:g.43046304A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 43014042, "referenceAllele": "A", "start": 43014041 } ], "hgvs": [ "NC_000006.11:g.43014042A>C", "CM000668.1:g.43014042A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 43122020, "referenceAllele": "A", "start": 43122019 } ], "hgvs": [ "NC_000006.10:g.43122020A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "G", "end": 12642, "referenceAllele": "T", "start": 12641 } ], "hgvs": [ "NG_016205.1:g.12642T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 479, "referenceAllele": "T", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000478630.2:n.479T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825292" }, { "coordinates": [ { "allele": "G", "end": 2875, "referenceAllele": "T", "start": 2874 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.2:c.2592T>G" ], "proteinEffect": { "hgvs": "ENSP00000501166.2:p.Tyr864Ter", "hgvsWellDefined": "ENSP00000501166.2:p.Tyr864_Ser1548delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAspSerArgTrpGlnGlnGlyThrGlnValGluMetGlyHisCysAlaAlaHisProThrSerAspValProAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826891" }, { "coordinates": [ { "allele": "G", "end": 2875, "referenceAllele": "T", "start": 2874 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000685042.1:c.2592T>G" ], "proteinEffect": { "hgvs": "ENSP00000509871.1:p.Tyr864Ter", "hgvsWellDefined": "ENSP00000509871.1:p.Tyr864_Glu1120delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829855" }, { "coordinates": [ { "allele": "G", "end": 3153, "referenceAllele": "T", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000686442.1:n.3153T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830576" }, { "coordinates": [ { "allele": "G", "end": 3247, "referenceAllele": "T", "start": 3246 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000687225.1:c.*705T>G" ], "proteinEffect": { "hgvs": "ENSP00000509364.1:n.*705T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "G", "end": 2875, "referenceAllele": "T", "start": 2874 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.2875T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "G", "end": 3169, "referenceAllele": "T", "start": 3168 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000689256.1:n.3169T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832076" }, { "coordinates": [ { "allele": "G", "end": 2792, "referenceAllele": "T", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000690231.1:c.2592T>G" ], "proteinEffect": { "hgvs": "ENSP00000508461.1:p.Tyr864Ter", "hgvsWellDefined": "ENSP00000508461.1:p.Tyr864_Arg1698delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "T", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.2592T>G" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Tyr864Ter", "hgvsWellDefined": "ENSP00000265348.4:p.Tyr864_Arg1698delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2592T>G" }, "RefSeq": { "hgvs": "NM_014780.5:c.2592T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Tyr864Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Tyr864Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "T", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673725.1:c.541T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773819" }, { "coordinates": [ { "allele": "G", "end": 3247, "referenceAllele": "T", "start": 3246 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.3247T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "G", "end": 3018, "referenceAllele": "T", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.2688T>G" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Tyr896Ter", "hgvsWellDefined": "ENSP00000501292.1:p.Tyr896_Arg1730delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774119" }, { "coordinates": [ { "allele": "G", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.1:c.1084T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774131" }, { "coordinates": [ { "allele": "G", "end": 2876, "referenceAllele": "T", "start": 2875 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674134.1:c.2688T>G" ], "proteinEffect": { "hgvs": "ENSP00000501068.1:p.Tyr896Ter", "hgvsWellDefined": "ENSP00000501068.1:p.Tyr896_Arg1730delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "G", "end": 2678, "referenceAllele": "T", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.2592T>G" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Tyr864Ter", "hgvsWellDefined": "ENSP00000265348.3:p.Tyr864_Arg1698delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "C", "end": 799, "endIntronDirection": "+", "endIntronOffset": 2796, "referenceAllele": "A", "start": 799, "startIntronDirection": "+", "startIntronOffset": 2795 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-553+2796A>C" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-553+2796A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "G", "end": 479, "referenceAllele": "T", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000478630.1:n.479T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319196" }, { "coordinates": [ { "allele": "G", "end": 2931, "referenceAllele": "T", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.2844T>G" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Tyr948Ter", "hgvsWellDefined": "ENSP00000438788.1:p.Tyr948_Arg1782delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "@id": "http://reg.genome.network/allele/PA236448", "coordinates": [ { "allele": "G", "end": 2931, "referenceAllele": "T", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.2844T>G" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Tyr948Ter", "hgvsWellDefined": "NP_001161842.1:p.Tyr948_Arg1782delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA236447", "coordinates": [ { "allele": "G", "end": 2924, "referenceAllele": "T", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.2592T>G" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Tyr864Ter", "hgvsWellDefined": "NP_055595.2:p.Tyr864_Arg1698delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "G", "end": 2784, "referenceAllele": "T", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.2748T>G" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Tyr916Ter", "hgvsWellDefined": "XP_005249560.1:p.Tyr916_Arg1750delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "G", "end": 3025, "referenceAllele": "T", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.2688T>G" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Tyr896Ter", "hgvsWellDefined": "XP_006715348.1:p.Tyr896_Arg1734delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "G", "end": 2880, "referenceAllele": "T", "start": 2879 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.2844T>G" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Tyr948Ter", "hgvsWellDefined": "XP_011513321.1:p.Tyr948_Arg1786delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "G", "end": 2784, "referenceAllele": "T", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.2748T>G" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Tyr916Ter", "hgvsWellDefined": "XP_011513322.1:p.Tyr916_Arg1754delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515021.1:c.453T>G" ], "proteinEffect": { "hgvs": "XP_011513323.1:p.Tyr151Ter", "hgvsWellDefined": "XP_011513323.1:p.Tyr151_Arg989delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082241" }, { "coordinates": [ { "allele": "G", "end": 2786, "referenceAllele": "T", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.2748T>G" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Tyr916Ter", "hgvsWellDefined": "XP_005249560.1:p.Tyr916_Arg1750delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "G", "end": 3020, "referenceAllele": "T", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.2688T>G" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Tyr896Ter", "hgvsWellDefined": "XP_006715348.1:p.Tyr896_Arg1734delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "G", "end": 2882, "referenceAllele": "T", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.2844T>G" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Tyr948Ter", "hgvsWellDefined": "XP_011513321.1:p.Tyr948_Arg1786delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "G", "end": 2785, "referenceAllele": "T", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.2748T>G" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Tyr916Ter", "hgvsWellDefined": "XP_011513322.1:p.Tyr916_Arg1754delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "G", "end": 2910, "referenceAllele": "T", "start": 2909 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.2871T>G" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Tyr957Ter", "hgvsWellDefined": "XP_016867022.1:p.Tyr957_Arg1795delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "G", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.2871T>G" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Tyr957Ter", "hgvsWellDefined": "XP_016867023.1:p.Tyr957_Arg1791delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "G", "end": 2813, "referenceAllele": "T", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.2775T>G" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Tyr925Ter", "hgvsWellDefined": "XP_016867024.1:p.Tyr925_Arg1763delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "T", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.2715T>G" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Tyr905Ter", "hgvsWellDefined": "XP_016867025.1:p.Tyr905_Arg1743delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "G", "end": 3020, "referenceAllele": "T", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.2688T>G" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Tyr896Ter", "hgvsWellDefined": "XP_016867026.1:p.Tyr896_Arg1730delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "G", "end": 2951, "referenceAllele": "T", "start": 2950 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.2619T>G" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Tyr873Ter", "hgvsWellDefined": "XP_016867027.1:p.Tyr873_Arg1711delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "G", "end": 2924, "referenceAllele": "T", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.2592T>G" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Tyr864Ter", "hgvsWellDefined": "XP_016867028.1:p.Tyr864_Arg1702delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "coordinates": [ { "allele": "G", "end": 2824, "referenceAllele": "T", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011540.1:c.*86T>G" ], "proteinEffect": { "hgvs": "XP_016867029.1:n.*86T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS565372" }, { "@id": "http://reg.genome.network/allele/PA2826055645", "coordinates": [ { "allele": "G", "end": 2837, "referenceAllele": "T", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.2688T>G" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Tyr896Ter", "hgvsWellDefined": "NP_001161842.2:p.Tyr896_Arg1730delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2828562806", "coordinates": [ { "allele": "G", "end": 2926, "referenceAllele": "T", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.2688T>G" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Tyr896Ter", "hgvsWellDefined": "NP_001361801.1:p.Tyr896_Arg1730delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828563183", "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "T", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.2592T>G" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Tyr864Ter", "hgvsWellDefined": "NP_001361802.1:p.Tyr864_Arg1702delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563739", "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "T", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.2592T>G" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Tyr864Ter", "hgvsWellDefined": "NP_001361803.1:p.Tyr864_Arg1697delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA236447", "coordinates": [ { "allele": "G", "end": 2830, "referenceAllele": "T", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.2592T>G" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Tyr864Ter", "hgvsWellDefined": "NP_055595.2:p.Tyr864_Arg1698delinsTrpGluSerAsnGlySerAlaGlySerHisTyrIleThrLeuHisMetArgArgGlyIleLeuIleArgGlnLeuThrLeuLeuValAlaSerGluAspSerSerTyrMetProAlaArgValValValCysGlyGlyAspSerThrSerSerLeuHisThrGluLeuAsnSerValAsnValMetProSerAlaSerArgValIleLeuLeuGluAsnLeuThrArgPheTrpProIleIleGlnIleArgIleLysArgCysGlnGlnGlyGlyIleAspThrArgIleArgGlyLeuGluIleLeuGlyProLysProThrPheTrpProValPheArgGluGlnLeuCysArgHisThrArgLeuPheTyrMetValArgAlaGlnAlaTrpSerGlnAspMetAlaGluAspArgArgSerLeuLeuHisLeuSerSerArgLeuAsnGlyAlaLeuArgGlnGluGlnAsnPheAlaAspArgPheLeuProAspAspGluAlaAlaGlnAlaLeuGlyLysThrCysTrpGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.2592T>G" }, "RefSeq": { "hgvs": "NM_014780.5:c.2592T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Tyr864Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Tyr864Ter" } } } } ], "type": "nucleotide" }