{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349597873", "communityStandardTitle": [ "NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557694[alleleid]", "alleleId": 557694, "preferredName": "NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571994", "RCV": [ "RCV000693279" ], "variationId": 571994 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.172291172C>T?assembly=hg19", "id": "chr2:g.172291172C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.171434662C>T?assembly=hg38", "id": "chr2:g.171434662C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/868533593", "rs": 868533593 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-172291172-C-T?dataset=gnomad_r2_1", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270630" }, { "coordinates": [ { "allele": "A", "end": 107, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 107, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "ENST00000442778.5:c.-13+12G>A" ], "proteinEffect": { "hgvs": "ENSP00000404646.1:n.-13+12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS297038" }, { "coordinates": [ { "allele": "A", "end": 107, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 107, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "ENST00000453846.5:c.-137+12G>A" ], "proteinEffect": { "hgvs": "ENSP00000411589.1:n.-137+12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS302302" }, { "coordinates": [ { "allele": "A", "end": 115, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 115, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "ENST00000460188.5:n.115+12G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304980" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 129, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "ENST00000462821.1:n.129+12G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306995" }, { "coordinates": [ { "allele": "T", "end": 54, "endIntronDirection": "+", "endIntronOffset": 392, "referenceAllele": "C", "start": 54, "startIntronDirection": "+", "startIntronOffset": 391 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000468592.5:n.54+392C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311471" }, { "coordinates": [ { "allele": "T", "end": 6, "referenceAllele": "C", "start": 5 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000495925.5:n.6C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332523" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "ENST00000539783.5:c.85C>T" ], "proteinEffect": { "hgvs": "ENSP00000442238.1:p.Gln29Ter", "hgvsWellDefined": "ENSP00000442238.1:p.Gln29_Cys453delinsArgThrAsnLeuGlyIleLeuArgAlaLeuValCysGlnGluSerThrLysPheLysAsnValTrpThrThrHisSerArgSerProIleAlaTyrGluArgGlyArgIleTyrPheAspAsnTyrArgArgCysValSerSerValAlaSerGluProArgLysLeuTyrGluMetProLysCysSerLysSerGluLysIleGluAspAlaLeuLeuTrpGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362052" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 129, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "ENST00000612742.4:c.-13+12G>A" ], "proteinEffect": { "hgvs": "ENSP00000480056.1:n.-13+12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS401436" }, { "@id": "http://reg.genome.network/allele/PA2826004442", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.1:c.85C>T" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Gln29Ter", "hgvsWellDefined": "NP_001158293.1:p.Gln29_Cys453delinsArgThrAsnLeuGlyIleLeuArgAlaLeuValCysGlnGluSerThrLysPheLysAsnValTrpThrThrHisSerArgSerProIleAlaTyrGluArgGlyArgIleTyrPheAspAsnTyrArgArgCysValSerSerValAlaSerGluProArgLysLeuTyrGluMetProLysCysSerLysSerGluLysIleGluAspAlaLeuLeuTrpGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014678" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 129, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "NM_024770.3:c.-13+12G>A" ], "proteinEffect": { "hgvs": "NP_079046.2:n.-13+12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS038004" }, { "@id": "http://reg.genome.network/allele/PA891855210", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.3:c.85C>T" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Gln29Ter", "hgvsWellDefined": "NP_079276.2:p.Gln29_Cys520delinsArgThrAsnLeuGlyIleLeuArgAlaLeuValCysGlnGluSerThrLysPheLysAsnValTrpThrThrHisSerArgSerProIleAlaTyrGluArgGlyArgIleTyrPheAspAsnTyrArgArgCysValSerSerValAlaSerGluProArgLysLeuTyrGluMetProLysCysSerLysSerGluLysIleGluAspAlaLeuLeuTrpGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" 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"NP_001158293.1:p.Gln29_Cys453delinsArgThrAsnLeuGlyIleLeuArgAlaLeuValCysGlnGluSerThrLysPheLysAsnValTrpThrThrHisSerArgSerProIleAlaTyrGluArgGlyArgIleTyrPheAspAsnTyrArgArgCysValSerSerValAlaSerGluProArgLysLeuTyrGluMetProLysCysSerLysSerGluLysIleGluAspAlaLeuLeuTrpGluCysProValGlyAspIleLeuProAsnSerSerAspTyrLysSerSerLeuIleAlaLeuThrAlaHisAsnTrpLeuLeuArgIleSerAlaThrThrGlyLysIleLeuGluLysIleTyrLeuAlaProTyrCysLysPheArgTyrLeuSerTrpAspThrProGlnGluValIleAlaValLysSerAlaGlnAsnArgGlySerAlaValAlaArgGlnAlaGlyIleGlnGlnHisValLeuLeuTyrLeuAlaValPheArgValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713128" }, { "coordinates": [ { "allele": "A", "end": 99, "endIntronDirection": "+", "endIntronOffset": 12, "referenceAllele": "G", "start": 99, "startIntronDirection": "+", "startIntronOffset": 11 } ], "gene": "http://reg.genome.network/gene/GN025856", "geneNCBI_id": 79828, "geneSymbol": "METTL8", "hgvs": [ "NM_024770.5:c.-13+12G>A" ], "proteinEffect": { "hgvs": "NP_079046.2:n.-13+12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS728670" } ], "type": "nucleotide" }