{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349276516", "communityStandardTitle": [ "NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2871135[alleleid]", "alleleId": 2871135, "preferredName": "NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2708844", "RCV": [ "RCV003496330" ], "variationId": 2708844 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.172300110G>A?assembly=hg19", "id": "chr2:g.172300110G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.171443600G>A?assembly=hg38", "id": "chr2:g.171443600G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2529656673", "rs": 2529656673 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 171443600, "referenceAllele": "G", "start": 171443599 } ], "hgvs": [ "NC_000002.12:g.171443600G>A", "CM000664.2:g.171443600G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 172300110, "referenceAllele": "G", "start": 172300109 } ], "hgvs": [ "NC_000002.11:g.172300110G>A", "CM000664.1:g.172300110G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 172008356, "referenceAllele": "G", "start": 172008355 } ], "hgvs": [ "NC_000002.10:g.172008356G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 14350, "referenceAllele": "G", "start": 14349 } ], "hgvs": [ "NG_013038.1:g.14350G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002682" }, { "coordinates": [ { "allele": "A", "end": 14350, "referenceAllele": "G", "start": 14349 } ], "hgvs": [ "NG_013038.2:g.14350G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673630" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000375255.8:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000364404.3:p.Trp103Ter", "hgvsWellDefined": "ENSP00000364404.3:p.Trp103_Cys520delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751581", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375255.8:c.308G>A" }, "RefSeq": { "hgvs": "NM_025000.4:c.308G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364404.3:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_079276.2:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000375255.7:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000364404.3:p.Trp103Ter", "hgvsWellDefined": "ENSP00000364404.3:p.Trp103_Cys520delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270630" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000436317.1:c.222G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS293913" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000468592.5:n.236G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311471" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000480855.1:n.464G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320902" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000490217.5:n.478G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328101" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000495925.5:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332523" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000539783.5:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000442238.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000442238.1:p.Trp103_Cys453delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362052" }, { "@id": "http://reg.genome.network/allele/PA2826004484", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.1:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Trp103Ter", "hgvsWellDefined": "NP_001158293.1:p.Trp103_Cys453delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014678" }, { "@id": "http://reg.genome.network/allele/PA2741987834", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.3:c.308G>A" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Trp103Ter", "hgvsWellDefined": "NP_079276.2:p.Trp103_Cys520delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038156" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NR_028482.1:n.635G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048086" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712766.2:c.308G>A" ], "proteinEffect": { "hgvs": "XP_006712829.1:p.Trp103Ter", "hgvsWellDefined": "XP_006712829.1:p.Trp103_Cys492delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069814" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712767.1:c.47G>A" ], "proteinEffect": { "hgvs": "XP_006712830.1:p.Trp16Ter", "hgvsWellDefined": "XP_006712830.1:p.Trp16_Cys433delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069815" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712768.1:c.47G>A" ], "proteinEffect": { "hgvs": "XP_006712831.1:p.Trp16Ter", "hgvsWellDefined": "XP_006712831.1:p.Trp16_Cys433delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069816" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712772.2:c.308G>A" ], "proteinEffect": { "hgvs": "XP_006712835.1:p.Trp103Ter", "hgvsWellDefined": "XP_006712835.1:p.Trp103_Pro286delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069817" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_011511881.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011510183.1:p.Trp103Ter", "hgvsWellDefined": "XP_011510183.1:p.Trp103_Cys509delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnLysGluAspTrpIleTrpAspGlnAsnPheSerLeuLeuThrSerLysGlyAspThrLeuLeuLeuIleGlyAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079140" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_011511882.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011510184.1:p.Trp103Ter", "hgvsWellDefined": "XP_011510184.1:p.Trp103_Cys499delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnLysGluAspTrpIleTrpAspGlnAsnPheSerLeuLeuThrAsnMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079141" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "G", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_011511883.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011510185.1:p.Trp103Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_011511884.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011510186.1:p.Trp103Ter", "hgvsWellDefined": "XP_011510186.1:p.Trp103_Pro286delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079143" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_011511885.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011510187.1:p.Trp103Ter", "hgvsWellDefined": "XP_011510187.1:p.Trp103_Pro286delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079144" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_427113.2:n.630G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117621" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_923029.1:n.630G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120091" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_923030.1:n.630G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120092" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017004995.1:c.308G>A" ], 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"http://reg.genome.network/refseq/RS560366" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017004996.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_016860485.1:p.Trp103Ter", "hgvsWellDefined": 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629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017004997.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_016860486.1:p.Trp103Ter", "hgvsWellDefined": "XP_016860486.1:p.Trp103_Asn332delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuSerPheGluAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560368" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017004998.1:c.-723G>A" ], "proteinEffect": { "hgvs": "XP_016860487.1:n.-723G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560369" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017004999.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_016860488.1:p.Trp103Ter", "hgvsWellDefined": 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"XP_016860489.1:p.Trp103_Pro286delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560371" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017005001.2:c.308G>A" ], "proteinEffect": { "hgvs": "XP_016860490.1:p.Trp103Ter", "hgvsWellDefined": "XP_016860490.1:p.Trp103_Pro286delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560372" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017005002.1:c.-489G>A" ], "proteinEffect": { "hgvs": "XP_016860491.1:n.-489G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560373" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_001738961.1:n.630G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589385" }, { "@id": "http://reg.genome.network/allele/PA2741987834", "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.4:c.308G>A" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Trp103Ter", "hgvsWellDefined": "NP_079276.2:p.Trp103_Cys520delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375255.8:c.308G>A" }, "RefSeq": { "hgvs": "NM_025000.4:c.308G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364404.3:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_079276.2:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NR_028482.2:n.660G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702051" }, { "@id": "http://reg.genome.network/allele/PA2826004484", "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.2:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Trp103Ter", "hgvsWellDefined": "NP_001158293.1:p.Trp103_Cys453delinsGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713128" } ], "type": "nucleotide" }