{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3813578", "communityStandardTitle": [ "NM_014780.5(CUL7):c.3129G>A (p.Trp1043Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=985728[alleleid]", "alleleId": 985728, "preferredName": "NM_014780.5(CUL7):c.3129G>A (p.Trp1043Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012246", "RCV": [ "RCV001871753" ], "variationId": 1012246 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-43012533-C-T", "id": "6-43012533-C-T", "variant": "6:43012533 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43012533C>T?assembly=hg19", "id": "chr6:g.43012533C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43044795C>T?assembly=hg38", "id": "chr6:g.43044795C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374105452", "rs": 374105452 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43012533-C-T?dataset=gnomad_r2_1", "id": "6-43012533-C-T", "variant": "6:43012533 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43044795-C-T?dataset=gnomad_r3", "id": "6-43044795-C-T", "variant": "6:43044795 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43044795-C-T?dataset=gnomad_r4", "id": "6-43044795-C-T", "variant": "6:43044795 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43044795, "referenceAllele": "C", "start": 43044794 } ], "hgvs": [ "NC_000006.12:g.43044795C>T", "CM000668.2:g.43044795C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 43012533, "referenceAllele": "C", "start": 43012532 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826891" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000685042.1:c.3129G>A" ], "proteinEffect": { "hgvs": "ENSP00000509871.1:p.Trp1043Ter", "hgvsWellDefined": "ENSP00000509871.1:p.Trp1043_Glu1120delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829855" }, { "coordinates": [ { "allele": "A", "end": 3690, "referenceAllele": "G", "start": 3689 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000686442.1:n.3690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830576" }, { "coordinates": [ { "allele": "A", "end": 3968, "referenceAllele": "G", "start": 3967 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000687225.1:c.*1426G>A" ], "proteinEffect": { "hgvs": "ENSP00000509364.1:n.*1426G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.3412G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "A", "end": 3706, "referenceAllele": "G", "start": 3705 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000689256.1:n.3706G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832076" }, { "coordinates": [ { "allele": "A", "end": 3329, "referenceAllele": "G", "start": 3328 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000690231.1:c.3129G>A" ], "proteinEffect": { "hgvs": "ENSP00000508461.1:p.Trp1043Ter", "hgvsWellDefined": "ENSP00000508461.1:p.Trp1043_Arg1698delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "G", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.3129G>A" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Trp1043Ter", "hgvsWellDefined": "ENSP00000265348.4:p.Trp1043_Arg1698delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.3129G>A" }, "RefSeq": { "hgvs": "NM_014780.5:c.3129G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Trp1043Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Trp1043Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673725.1:c.1078G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773819" }, { "coordinates": [ { "allele": "A", "end": 3968, "referenceAllele": "G", "start": 3967 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.3968G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "A", "end": 3555, "referenceAllele": "G", "start": 3554 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.3225G>A" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Trp1075Ter", "hgvsWellDefined": "ENSP00000501292.1:p.Trp1075_Arg1730delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774119" }, { "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "G", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.1:c.1621G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774131" }, { "coordinates": [ { "allele": "A", "end": 3413, "referenceAllele": "G", "start": 3412 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674134.1:c.3225G>A" ], "proteinEffect": { "hgvs": "ENSP00000501068.1:p.Trp1075Ter", "hgvsWellDefined": "ENSP00000501068.1:p.Trp1075_Arg1730delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "A", "end": 3215, "referenceAllele": "G", "start": 3214 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.3129G>A" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Trp1043Ter", "hgvsWellDefined": "ENSP00000265348.3:p.Trp1043_Arg1698delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "T", "end": 799, "endIntronDirection": "+", "endIntronOffset": 1287, "referenceAllele": "C", "start": 799, "startIntronDirection": "+", "startIntronOffset": 1286 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-553+1287C>T" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-553+1287C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "A", "end": 3468, "referenceAllele": "G", "start": 3467 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.3381G>A" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Trp1127Ter", "hgvsWellDefined": "ENSP00000438788.1:p.Trp1127_Arg1782delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "coordinates": [ { "allele": "A", "end": 3468, "referenceAllele": "G", "start": 3467 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.3381G>A" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Trp1127Ter", "hgvsWellDefined": "NP_001161842.1:p.Trp1127_Arg1782delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA2829785862", "coordinates": [ { "allele": "A", "end": 3461, "referenceAllele": "G", "start": 3460 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.3129G>A" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Trp1043Ter", "hgvsWellDefined": "NP_055595.2:p.Trp1043_Arg1698delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "A", "end": 3321, "referenceAllele": "G", "start": 3320 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.3285G>A" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Trp1095Ter", "hgvsWellDefined": "XP_005249560.1:p.Trp1095_Arg1750delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "A", "end": 3562, "referenceAllele": "G", "start": 3561 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.3225G>A" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Trp1075Ter", "hgvsWellDefined": "XP_006715348.1:p.Trp1075_Arg1734delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "A", "end": 3417, "referenceAllele": "G", "start": 3416 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.3381G>A" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Trp1127Ter", "hgvsWellDefined": "XP_011513321.1:p.Trp1127_Arg1786delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "A", "end": 3321, "referenceAllele": "G", "start": 3320 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.3285G>A" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Trp1095Ter", "hgvsWellDefined": "XP_011513322.1:p.Trp1095_Arg1754delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515021.1:c.990G>A" ], "proteinEffect": { "hgvs": "XP_011513323.1:p.Trp330Ter", "hgvsWellDefined": "XP_011513323.1:p.Trp330_Arg989delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082241" }, { "coordinates": [ { "allele": "A", "end": 3323, "referenceAllele": "G", "start": 3322 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.3285G>A" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Trp1095Ter", "hgvsWellDefined": "XP_005249560.1:p.Trp1095_Arg1750delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "A", "end": 3557, "referenceAllele": "G", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.3225G>A" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Trp1075Ter", "hgvsWellDefined": "XP_006715348.1:p.Trp1075_Arg1734delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "A", "end": 3419, "referenceAllele": "G", "start": 3418 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.3381G>A" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Trp1127Ter", "hgvsWellDefined": "XP_011513321.1:p.Trp1127_Arg1786delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "A", "end": 3322, "referenceAllele": "G", "start": 3321 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.3285G>A" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Trp1095Ter", "hgvsWellDefined": "XP_011513322.1:p.Trp1095_Arg1754delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "A", "end": 3447, "referenceAllele": "G", "start": 3446 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.3408G>A" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Trp1136Ter", "hgvsWellDefined": "XP_016867022.1:p.Trp1136_Arg1795delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "A", "end": 3446, "referenceAllele": "G", "start": 3445 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.3408G>A" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Trp1136Ter", "hgvsWellDefined": "XP_016867023.1:p.Trp1136_Arg1791delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "A", "end": 3350, "referenceAllele": "G", "start": 3349 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.3312G>A" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Trp1104Ter", "hgvsWellDefined": "XP_016867024.1:p.Trp1104_Arg1763delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "A", "end": 3584, "referenceAllele": "G", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.3252G>A" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Trp1084Ter", "hgvsWellDefined": "XP_016867025.1:p.Trp1084_Arg1743delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "A", "end": 3557, "referenceAllele": "G", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.3225G>A" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Trp1075Ter", "hgvsWellDefined": "XP_016867026.1:p.Trp1075_Arg1730delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "A", "end": 3488, "referenceAllele": "G", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.3156G>A" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Trp1052Ter", "hgvsWellDefined": "XP_016867027.1:p.Trp1052_Arg1711delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "A", "end": 3461, "referenceAllele": "G", "start": 3460 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.3129G>A" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Trp1043Ter", "hgvsWellDefined": "XP_016867028.1:p.Trp1043_Arg1702delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "@id": "http://reg.genome.network/allele/PA2826055721", "coordinates": [ { "allele": "A", "end": 3374, "referenceAllele": "G", "start": 3373 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.3225G>A" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Trp1075Ter", "hgvsWellDefined": "NP_001161842.2:p.Trp1075_Arg1730delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2499255311", "coordinates": [ { "allele": "A", "end": 3463, "referenceAllele": "G", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.3225G>A" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Trp1075Ter", "hgvsWellDefined": "NP_001361801.1:p.Trp1075_Arg1730delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828563260", "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "G", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.3129G>A" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Trp1043Ter", "hgvsWellDefined": "NP_001361802.1:p.Trp1043_Arg1702delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyAlaPheIleSerGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563816", "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "G", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.3129G>A" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Trp1043Ter", "hgvsWellDefined": "NP_001361803.1:p.Trp1043_Arg1697delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProSerArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA2829785862", "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "G", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.3129G>A" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Trp1043Ter", "hgvsWellDefined": "NP_055595.2:p.Trp1043_Arg1698delinsGluAlaLeuValSerProValValGlnAsnIleThrSerProAspGluAspGlyIleSerProLeuGlyTrpLeuLeuAspGlnTyrLeuGluCysGlnGluAlaValPheAsnProGlnSerArgGlyProAlaPhePheSerArgValArgArgLeuThrHisLeuLeuValHisValGluProCysGluAlaProProProValValAlaThrProArgProLysGlyArgAsnArgSerHisAspTrpSerSerLeuAlaThrArgGlyLeuProSerSerIleMetArgAsnLeuThrArgCysTrpArgAlaValValGluLysGlnValAsnAsnPheLeuThrSerSerTrpArgAspAspAspPheValProArgTyrCysGluHisPheAsnIleLeuGlnAsnSerSerSerGluLeuPheGlyProArgAlaAlaPheLeuLeuAlaLeuGlnAsnGlyCysAlaGlyAlaLeuLeuLysLeuProPheLeuLysAlaAlaHisValSerGluGlnPheAlaArgHisIleAspGlnGlnIleGlnGlySerArgIleGlyGlyAlaGlnGluMetGluArgLeuAlaGlnLeuGlnGlnCysLeuGlnAlaValLeuIlePheSerGlyLeuGluIleAlaThrThrPheGluHisTyrTyrGlnHisTyrMetAlaAspArgLeuLeuGlyValValSerSerTrpLeuGluGlyAlaValLeuGluGlnIleGlyProCysPheProAsnArgLeuProGlnGlnMetLeuGlnSerLeuSerThrSerLysGluLeuGlnArgGlnPheHisValTyrGlnLeuGlnGlnLeuAspGlnGluLeuLeuLysLeuGluAspThrGluLysLysIleGlnValGlyLeuGlyAlaSerGlyLysGluHisLysSerGluLysGluGluGluAlaGlyAlaAlaAlaValValAspValAlaGluGlyGluGluGluGluGluGluAsnGluAspLeuTyrTyrGluGlyAlaMetProGluValSerValLeuValLeuSerArgHisSerTrpProValAlaSerIleCysHisThrLeuAsnProArgThrCysLeuProSerTyrLeuArgGlyThrLeuAsnArgTyrSerAsnPheTyrAsnLysSerGlnSerHisProAlaLeuGluArgGlySerGlnArgArgLeuGlnTrpThrTrpLeuGlyTrpAlaGluLeuGlnPheGlyAsnGlnThrLeuHisValSerThrValGlnMetTrpLeuLeuLeuTyrLeuAsnAspLeuLysAlaValSerValGluSerLeuLeuAlaPheSerGlyLeuSerAlaAspMetLeuAsnGlnAlaIleGlyProLeuThrSerSerArgGlyProLeuAspLeuHisGluGlnLysAspIleProGlyGlyValLeuLysIleArgAspGlySerLysGluProArgSerArgTrpAspIleValArgLeuIleProProGlnThrTyrLeuGlnAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.3129G>A" }, "RefSeq": { "hgvs": "NM_014780.5:c.3129G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Trp1043Ter" }, "RefSeq": { "hgvs": "NP_055595.2:p.Trp1043Ter" } } } } ], "type": "nucleotide" }