{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367287438", "communityStandardTitle": [ "NM_003718.5(CDK13):c.1987A>T (p.Lys663Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3392580[alleleid]", "alleleId": 3392580, "preferredName": "NM_003718.5(CDK13):c.1987A>T (p.Lys663Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233454", "RCV": [ "RCV004526304" ], "variationId": 3233454 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.40037208A>T?assembly=hg19", "id": "chr7:g.40037208A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.39997609A>T?assembly=hg38", "id": "chr7:g.39997609A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1321687875", "rs": 1321687875 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 39997609, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747935" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000484589.2:c.539A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757477" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "A", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000642626.1:c.776A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766845" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "A", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000642660.1:n.776A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766863" }, { "coordinates": [ { "allele": "T", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767538" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "A", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000646039.1:c.1327A>T" ], "proteinEffect": { "hgvs": "ENSP00000494168.1:p.Lys443Ter", "hgvsWellDefined": "ENSP00000494168.1:p.Lys443_Tyr1308delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProGluArgPheLeuHisAlaGluAlaMetHisHisSerLysMetAlaGluSerLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768664" }, { "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "A", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000646437.1:c.606A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768871" }, { "coordinates": [ { "allele": "T", "end": 3824, "referenceAllele": "A", "start": 3823 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000647518.1:n.3824A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769460" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "A", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000181839.8:c.1987A>T" ], "proteinEffect": { "hgvs": "ENSP00000181839.4:p.Lys663Ter", "hgvsWellDefined": "ENSP00000181839.4:p.Lys663_Tyr1512delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247700" }, { "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "A", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000340829.9:c.1987A>T" ], "proteinEffect": { "hgvs": "ENSP00000340557.5:p.Lys663Ter", "hgvsWellDefined": "ENSP00000340557.5:p.Lys663_Tyr1452delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261180" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000484589.1:n.539A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323808" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "A", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000611390.1:c.145A>T" ], "proteinEffect": { "hgvs": "ENSP00000484610.1:p.Lys49Ter", "hgvsWellDefined": "ENSP00000484610.1:p.Lys49_Ala418delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysCysLeuHisGlnIleSerLeuTyrGlyLysIleValMetSerTyrGlyValLysSerGluGluAspArgSerArgTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400825" }, { "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "A", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000613626.4:c.145A>T" ], "proteinEffect": { "hgvs": "ENSP00000480835.1:p.Lys49Ter", "hgvsWellDefined": "ENSP00000480835.1:p.Lys49_Ile324delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleArgHisGluGluAsnGluValSerAspLysGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401828" }, { "@id": "http://reg.genome.network/allele/PA2829468816", "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "A", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_003718.4:c.1987A>T" ], "proteinEffect": { "hgvs": "NP_003709.3:p.Lys663Ter", "hgvsWellDefined": "NP_003709.3:p.Lys663_Tyr1512delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028941" }, { "@id": "http://reg.genome.network/allele/PA2830072411", "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "A", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_031267.3:c.1987A>T" ], "proteinEffect": { "hgvs": "NP_112557.2:p.Lys663Ter", "hgvsWellDefined": "NP_112557.2:p.Lys663_Tyr1452delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038564" }, { "coordinates": [ { "allele": "T", "end": 2791, "referenceAllele": "A", "start": 2790 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515597.1:c.1987A>T" ], "proteinEffect": { "hgvs": "XP_011513899.1:p.Lys663Ter", "hgvsWellDefined": "XP_011513899.1:p.Lys663_Leu905delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerValGlnPheArgProTyrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082817" }, { "coordinates": [ { "allele": "T", "end": 2791, "referenceAllele": "A", "start": 2790 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515598.1:c.1987A>T" ], "proteinEffect": { "hgvs": "XP_011513900.1:p.Lys663Ter", "hgvsWellDefined": "XP_011513900.1:p.Lys663_Arg897delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082818" }, { "coordinates": [ { "allele": "T", "end": 2965, "referenceAllele": "A", "start": 2964 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515597.3:c.1987A>T" ], "proteinEffect": { "hgvs": "XP_011513899.1:p.Lys663Ter", "hgvsWellDefined": "XP_011513899.1:p.Lys663_Leu905delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerValGlnPheArgProTyrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543823" }, { "coordinates": [ { "allele": "T", "end": 2965, "referenceAllele": "A", "start": 2964 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_017012750.2:c.1987A>T" ], "proteinEffect": { "hgvs": "XP_016868239.1:p.Lys663Ter", "hgvsWellDefined": "XP_016868239.1:p.Lys663_Tyr1542delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566271" }, { "coordinates": [ { "allele": "T", "end": 2965, "referenceAllele": "A", "start": 2964 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_017012751.2:c.1987A>T" ], "proteinEffect": { "hgvs": "XP_016868240.1:p.Lys663Ter", "hgvsWellDefined": "XP_016868240.1:p.Lys663_Tyr1482delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566272" }, { "@id": "http://reg.genome.network/allele/PA2829468816", "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "A", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_003718.5:c.1987A>T" ], "proteinEffect": { "hgvs": "NP_003709.3:p.Lys663Ter", "hgvsWellDefined": "NP_003709.3:p.Lys663_Tyr1512delinsSerProGluGluLysLysThrAlaThrGlnLeuHisSerLysArgArgProLysIleCysGlyProArgTyrGlyGluThrLysGluLysAspIleAspTrpGlyLysArgCysValAspLysPheAspIleIleGlyIleIleGlyGluGlyThrTyrGlyGlnValTyrLysAlaArgAspLysAspThrGlyGluMetValAlaLeuLysLysValArgLeuAspAsnGluLysGluGlyPheProIleThrAlaIleArgGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666146", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000181839.10:c.1987A>T" }, "RefSeq": { "hgvs": "NM_003718.5:c.1987A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000181839.4:p.Lys663Ter" }, "RefSeq": { "hgvs": "NP_003709.3:p.Lys663Ter" } } } } ], "type": "nucleotide" }