{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA60633923", "communityStandardTitle": [ "NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40266[alleleid]", "alleleId": 40266, "preferredName": "NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31582", "RCV": [ "RCV000024288" ], "variationId": 31582 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.172305210C>A?assembly=hg19", "id": "chr2:g.172305210C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.171448700C>A?assembly=hg38", "id": "chr2:g.171448700C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760978794", "rs": 760978794 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-171448700-C-A?dataset=gnomad_r4", "id": "2-171448700-C-A", "variant": "2:171448700 C / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 171448700, "referenceAllele": "C", "start": 171448699 } ], "hgvs": [ "NC_000002.12:g.171448700C>A", "CM000664.2:g.171448700C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 172305210, "referenceAllele": "C", "start": 172305209 } ], "hgvs": [ "NC_000002.11:g.172305210C>A", "CM000664.1:g.172305210C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 172013456, "referenceAllele": "C", "start": 172013455 } ], "hgvs": [ "NC_000002.10:g.172013456C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 19450, "referenceAllele": "C", "start": 19449 } ], "hgvs": [ "NG_013038.1:g.19450C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002682" }, { "coordinates": [ { "allele": "A", "end": 19450, "referenceAllele": "C", "start": 19449 } ], "hgvs": [ "NG_013038.2:g.19450C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673630" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000375255.8:c.341C>A" ], "proteinEffect": { "hgvs": "ENSP00000364404.3:p.Ser114Ter", "hgvsWellDefined": "ENSP00000364404.3:p.Ser115_Cys520delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751581", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375255.8:c.341C>A" }, "RefSeq": { "hgvs": "NM_025000.4:c.341C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364404.3:p.Ser114Ter" }, "RefSeq": { "hgvs": "NP_079276.2:p.Ser114Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000375255.7:c.341C>A" ], "proteinEffect": { "hgvs": "ENSP00000364404.3:p.Ser114Ter", "hgvsWellDefined": "ENSP00000364404.3:p.Ser115_Cys520delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270630" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000436317.1:c.373C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS293913" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "C", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000468592.5:n.269C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311471" }, { "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000480855.1:n.497C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320902" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000490217.5:n.511C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328101" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000495925.5:n.158C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332523" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000539783.5:c.341C>A" ], "proteinEffect": { "hgvs": "ENSP00000442238.1:p.Ser114Ter", "hgvsWellDefined": "ENSP00000442238.1:p.Ser115_Cys453delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362052" }, { "@id": "http://reg.genome.network/allele/PA2826004488", "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.1:c.341C>A" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Ser114Ter", "hgvsWellDefined": "NP_001158293.1:p.Ser115_Cys453delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014678" }, { "@id": "http://reg.genome.network/allele/PA891855224", "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.3:c.341C>A" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Ser114Ter", "hgvsWellDefined": "NP_079276.2:p.Ser115_Cys520delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038156" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NR_028482.1:n.668C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048086" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712766.2:c.341C>A" ], "proteinEffect": { "hgvs": "XP_006712829.1:p.Ser114Ter", "hgvsWellDefined": "XP_006712829.1:p.Ser115_Cys492delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069814" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "C", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712767.1:c.80C>A" ], "proteinEffect": { "hgvs": "XP_006712830.1:p.Ser27Ter", "hgvsWellDefined": "XP_006712830.1:p.Ser28_Cys433delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069815" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_006712768.1:c.80C>A" ], "proteinEffect": { "hgvs": "XP_006712831.1:p.Ser27Ter", "hgvsWellDefined": "XP_006712831.1:p.Ser28_Cys433delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" 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"XP_016860489.1:p.Ser115_Pro286delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560371" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017005001.2:c.341C>A" ], "proteinEffect": { "hgvs": "XP_016860490.1:p.Ser114Ter", "hgvsWellDefined": "XP_016860490.1:p.Ser115_Pro286delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560372" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017005002.1:c.-338C>A" ], "proteinEffect": { "hgvs": "XP_016860491.1:n.-338C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560373" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_001738961.1:n.663C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589385" }, { "@id": "http://reg.genome.network/allele/PA891855224", "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.4:c.341C>A" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Ser114Ter", "hgvsWellDefined": "NP_079276.2:p.Ser115_Cys520delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375255.8:c.341C>A" }, "RefSeq": { "hgvs": "NM_025000.4:c.341C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364404.3:p.Ser114Ter" }, "RefSeq": { "hgvs": "NP_079276.2:p.Ser114Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NR_028482.2:n.693C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702051" }, { "@id": "http://reg.genome.network/allele/PA2826004488", "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.2:c.341C>A" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Ser114Ter", "hgvsWellDefined": "NP_001158293.1:p.Ser115_Cys453delinsAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713128" } ], "type": "nucleotide" }