{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372758954", "communityStandardTitle": [ "NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3006420[alleleid]", "alleleId": 3006420, "preferredName": "NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2851743", "RCV": [ "RCV003763296" ], "variationId": 2851743 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.304686C>A?assembly=hg19", "id": "chr9:g.304686C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.304686C>A?assembly=hg38", "id": "chr9:g.304686C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2537713873", "rs": 2537713873 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 304686, "referenceAllele": "C", "start": 304685 } ], "hgvs": [ "NC_000009.12:g.304686C>A", "CM000671.2:g.304686C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 304686, "referenceAllele": "C", "start": 304685 } ], "hgvs": [ "NC_000009.11:g.304686C>A", "CM000671.1:g.304686C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 294686, "referenceAllele": "C", "start": 294685 } ], "hgvs": [ "NC_000009.10:g.294686C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 94822, "referenceAllele": "C", "start": 94821 } ], "hgvs": [ "NG_017007.1:g.94822C>A", "LRG_196:g.94822C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003365" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382329.2:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000371766.2:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824413" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000483757.6:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000417691.2:p.Cys102Ter", "hgvsWellDefined": "ENSP00000417691.2:p.Cys102_Asn503del" }, "referenceSequence": "http://reg.genome.network/refseq/RS825349" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000682249.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000507731.1:p.Cys102Ter", "hgvsWellDefined": "ENSP00000507731.1:p.Cys102_Met187delinsSerGluProAlaAlaGlnAlaGlyProArgHisLeuAsnValLeuCysAspValSerGlyLysGlyProValThrAlaCysAspPheAspLeuArgSerLeuGlnProAspLysArgLeuGluAsnLeuLeuGlnGlnValSerAlaGluAspPheGluLysGlnAsnGluGluAlaArgArgThrAsnArgGlnAlaGluLeuPheAlaLeuTyrProSerValAspGluPheCysAspGlyAspAlaAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827244" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000684384.1:n.619C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829339" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.7:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Cys170Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS755428", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.510C>A" }, "RefSeq": { "hgvs": "NM_203447.4:c.510C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Cys170Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Cys170Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382341.5:n.405C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS273709" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.6:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Cys170Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS292259" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000453981.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000408464.2:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302361" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000454469.6:n.619C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS302577" }, { "coordinates": [ { "allele": "A", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000469391.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000419438.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS312080" }, { "coordinates": [ { "allele": "A", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000478380.5:n.389C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318997" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000483757.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000417691.1:p.Cys102Ter", "hgvsWellDefined": "ENSP00000417691.1:p.Cys102_His502delinsSerGluProAlaAlaGlnAlaGlyProArgHisLeuAsnValLeuCysAspValSerGlyLysGlyProValThrAlaCysAspPheAspLeuArgSerLeuGlnProAspLysArgLeuGluAsnLeuLeuGlnGlnValSerAlaGluAspPheGluLysGlnAsnGluGluAlaArgArgThrAsnArgGlnAlaGluLeuPheAlaLeuTyrProSerValAspGluGluAspAlaValGluIleArgProValProGluCysProLysGluHisLeuGlyAsnArgIleLeuValLysLeuLeuThrLeuLysPheGluIleGluIleGluProLeuPheAlaSerIleAlaLeuTyrAspValLysGluArgLysLysIleSerGluAsnPheHisCysAspLeuAsnSerAspGlnPheLysGlyPheLeuArgAlaHisThrProSerValAlaAlaSerSerGlnAlaArgSerAlaValPheSerValThrTyrProSerSerAspIleTyrLeuValValLysIleGluLysValLeuGlnGlnGlyGluIleGlyAspCysAlaGluProTyrThrValIleLysGluSerAspGlyGlyLysSerLysGluLysIleGluLysLeuLysLeuGlnAlaGluSerPheCysGlnArgLeuGlyLysTyrArgMetProPheAlaTrpAlaProIleSerLeuSerSerPhePheAsnValSerThrLeuGluArgGluValThrAspValAspSerValValGlyArgSerSerValGlyGluArgArgThrLeuAlaGlnSerArgArgLeuSerGluArgAlaLeuSerLeuGluGluAsnGlyValGlySerAsnPheLysThrSerThrLeuSerValSerSerPhePheLysGlnGluGlyAspArgLeuSerAspGluAspLeuPheLysPheLeuAlaAspTyrLysArgSerSerSerLeuGlnArgArgValLysSerIleProGlyLeuLeuArgLeuGluIleSerThrAlaProGluIleIleAsnCysCysLeuThrProGluMetLeuProValLysProPheProGluAsnArgThrArgProHisLysGluIleLeuGluPheProThrArgGluValTyrValProHisThrValTyrArgGluValPheGlnValSerAlaValAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323159" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000487230.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000418318.1:p.Cys102Ter", "hgvsWellDefined": "ENSP00000418318.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS325846" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000495184.5:n.371C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331939" }, { "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "C", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000524396.5:c.*473C>A" ], "proteinEffect": { "hgvs": "ENSP00000436628.1:n.*473C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS350565" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS016185" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS016442" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.3:c.510C>A", "LRG_196t1:c.510C>A" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Cys170Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS045213" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS085227" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.1:c.372C>A" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Cys124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS085228" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS085229" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS085230" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544747" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.2:c.372C>A" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Cys124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544748" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.3:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544749" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.2:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS544750" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015173.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_016870662.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS567954" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015174.1:c.372C>A" ], "proteinEffect": { "hgvs": "XP_016870663.1:p.Cys124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS567955" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS679115" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Cys102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS713758" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.4:c.510C>A" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Cys170Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS730068", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.510C>A" }, "RefSeq": { "hgvs": "NM_203447.4:c.510C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Cys170Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Cys170Ter" } } } } ], "type": "nucleotide" }