{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367289590", "communityStandardTitle": [ "NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016896[alleleid]", "alleleId": 1016896, "preferredName": "NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028145", "RCV": [ "RCV001329114" ], "variationId": 1028145 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.40041528C>T?assembly=hg19", "id": "chr7:g.40041528C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.40001929C>T?assembly=hg38", "id": "chr7:g.40001929C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1295790880", "rs": 1295790880 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-40041528-C-T?dataset=gnomad_r2_1", "id": "7-40041528-C-T", "variant": "7:40041528 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-40001929-C-T?dataset=gnomad_r4", "id": "7-40001929-C-T", "variant": "7:40001929 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 40001929, "referenceAllele": "C", "start": 40001928 } ], "hgvs": [ "NC_000007.14:g.40001929C>T", "CM000669.2:g.40001929C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 40041528, "referenceAllele": "C", "start": 40041527 } ], "hgvs": [ "NC_000007.13:g.40041528C>T", "CM000669.1:g.40041528C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 40008053, "referenceAllele": "C", "start": 40008052 } ], "hgvs": [ "NC_000007.12:g.40008053C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 56570, "referenceAllele": "C", "start": 56569 } ], "hgvs": [ "NG_052965.1:g.56570C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617276" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000181839.10:c.2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000181839.4:p.Arg751Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747935" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000484589.2:c.803C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757477" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000642213.1:n.733C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766618" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000643859.1:c.1142C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767511" }, { "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000643915.1:c.565C>T" ], "proteinEffect": { "hgvs": "ENSP00000496187.1:p.Arg189Ter", "hgvsWellDefined": "ENSP00000496187.1:p.Arg189_Tyr915delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleArgAlaSerLeuCysCysGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProLeuProProArgPheAsnArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767538" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000645470.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000495036.1:p.Arg61Ter", "hgvsWellDefined": "ENSP00000495036.1:p.Arg61_Ile239delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleArgPheIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768370" }, { "coordinates": [ { "allele": "T", "end": 1591, "referenceAllele": "C", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000646039.1:c.1591C>T" ], "proteinEffect": { "hgvs": "ENSP00000494168.1:p.Arg531Ter", "hgvsWellDefined": "ENSP00000494168.1:p.Arg531_Tyr1308delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProGluArgPheLeuHisAlaGluAlaMetHisHisSerLysMetAlaGluSerLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768664" }, { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000647453.1:n.1320C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769421" }, { "coordinates": [ { "allele": "T", "end": 4088, "referenceAllele": "C", "start": 4087 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000647518.1:n.4088C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769460" }, { "coordinates": [ { "allele": "T", "end": 2856, "referenceAllele": "C", "start": 2855 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000181839.8:c.2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000181839.4:p.Arg751Ter", "hgvsWellDefined": "ENSP00000181839.4:p.Arg751_Tyr1512delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247700" }, { "coordinates": [ { "allele": "T", "end": 2383, "referenceAllele": "C", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000340829.9:c.2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000340557.5:p.Arg751Ter", "hgvsWellDefined": "ENSP00000340557.5:p.Arg751_Tyr1452delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261180" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000484589.1:n.803C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323808" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000611390.1:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000484610.1:p.Arg137Ter", "hgvsWellDefined": "ENSP00000484610.1:p.Arg137_Ala418delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysCysLeuHisGlnIleSerLeuTyrGlyLysIleValMetSerTyrGlyValLysSerGluGluAspArgSerArgTrpAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400825" }, { "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "ENST00000613626.4:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000480835.1:p.Arg137Ter", "hgvsWellDefined": "ENSP00000480835.1:p.Arg137_Ile324delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleArgHisGluGluAsnGluValSerAspLysGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401828" }, { "@id": "http://reg.genome.network/allele/PA2829468879", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_003718.4:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_003709.3:p.Arg751Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS028941" }, { "@id": "http://reg.genome.network/allele/PA2499292308", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_031267.3:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_112557.2:p.Arg751Ter", "hgvsWellDefined": "NP_112557.2:p.Arg751_Tyr1452delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038564" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "C", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515597.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011513899.1:p.Arg751Ter", "hgvsWellDefined": "XP_011513899.1:p.Arg751_Leu905delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerValGlnPheArgProTyrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082817" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "C", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515598.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011513900.1:p.Arg751Ter", "hgvsWellDefined": "XP_011513900.1:p.Arg751_Arg897delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082818" }, { "coordinates": [ { "allele": "T", "end": 3229, "referenceAllele": "C", "start": 3228 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_011515597.3:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011513899.1:p.Arg751Ter", "hgvsWellDefined": "XP_011513899.1:p.Arg751_Leu905delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerValGlnPheArgProTyrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543823" }, { "coordinates": [ { "allele": "T", "end": 3229, "referenceAllele": "C", "start": 3228 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_017012750.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_016868239.1:p.Arg751Ter", "hgvsWellDefined": "XP_016868239.1:p.Arg751_Tyr1542delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566271" }, { "coordinates": [ { "allele": "T", "end": 3229, "referenceAllele": "C", "start": 3228 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "XM_017012751.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_016868240.1:p.Arg751Ter", "hgvsWellDefined": "XP_016868240.1:p.Arg751_Tyr1482delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerAlaTrpLeuMetLeuIleTrpGluLysValIlePheIleTrpArgIleLeuLeuMetGlnMetSerAlaGlySerPheGlyAspSerSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566272" }, { "@id": "http://reg.genome.network/allele/PA2829468879", "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN001733", "geneNCBI_id": 8621, "geneSymbol": "CDK13", "hgvs": [ "NM_003718.5:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_003709.3:p.Arg751Ter", "hgvsWellDefined": "NP_003709.3:p.Arg751_Tyr1512delinsGluIleLysIleLeuArgGlnLeuThrHisGlnSerIleIleAsnMetLysGluIleValThrAspLysGluAspAlaLeuAspPheLysLysAspLysGlyAlaPheTyrLeuValPheGluTyrMetAspHisAspLeuMetGlyLeuLeuGluSerGlyLeuValHisPheAsnGluAsnHisIleLysSerPheMetArgGlnLeuMetGluGlyLeuAspTyrCysHisLysLysAsnPheLeuHisArgAspIleLysCysSerAsnIleLeuLeuAsnAsnArgGlyGlnIleLysLeuAlaAspPheGlyLeuAlaArgLeuTyrSerSerGluGluSerArgProTyrThrAsnLysValIleThrLeuTrpTyrArgProProGluLeuLeuLeuGlyGluGluArgTyrThrProAlaIleAspValTrpSerCysGlyCysIleLeuGlyGluLeuPheThrLysLysProIlePheGlnAlaAsnGlnGluLeuAlaGlnLeuGluLeuIleSerArgIleCysGlySerProCysProAlaValTrpProAspValIleLysLeuProTyrPheAsnThrMetLysProLysLysGlnTyrArgArgLysLeuArgGluGluPheValPheIleProAlaAlaAlaLeuAspLeuPheAspTyrMetLeuAlaLeuAspProSerLysArgCysThrAlaGluGlnAlaLeuGlnCysGluPheLeuArgAspValGluProSerLysMetProProProAspLeuProLeuTrpGlnAspCysHisGluLeuTrpSerLysLysArgArgArgGlnLysGlnMetGlyMetThrAspAspValSerThrIleLysAlaProArgLysAspLeuSerLeuGlyLeuAspAspSerArgThrAsnThrProGlnGlyValLeuProSerSerGlnLeuLysSerGlnGlySerSerAsnValAlaProValLysThrGlyProGlyGlnHisLeuAsnHisSerGluLeuAlaIleLeuLeuAsnLeuLeuGlnSerLysThrSerValAsnMetAlaAspPheValGlnValLeuAsnIleLysValAsnSerGluThrGlnGlnGlnLeuAsnLysIleAsnLeuProAlaGlyIleLeuAlaThrGlyGluLysGlnThrAspProSerThrProGlnGlnGluSerSerLysProLeuGlyGlyIleGlnProSerSerGlnThrIleGlnProLysValGluThrAspAlaAlaGlnAlaAlaValGlnSerAlaPheAlaValLeuLeuThrGlnLeuIleLysAlaGlnGlnSerLysGlnLysAspValLeuLeuGluGluArgGluAsnGlySerGlyHisGluAlaSerLeuGlnLeuArgProProProGluProSerThrProValSerGlyGlnAspAspLeuIleGlnHisGlnAspMetArgIleLeuGluLeuThrProGluProAspArgProArgIleLeuProProAspGlnArgProProGluProProGluProProProValThrGluGluAspLeuAspTyrArgThrGluAsnGlnHisValProThrThrSerSerSerLeuThrAspProHisAlaGlyValLysAlaAlaLeuLeuGlnLeuLeuAlaGlnHisGlnProGlnAspAspProLysArgGluGlyGlyIleAspTyrGlnAlaGlyAspThrTyrValSerThrSerAspTyrLysAspAsnPheGlySerSerSerPheSerSerAlaProTyrValSerAsnAspGlyLeuGlySerSerSerAlaProProLeuGluArgArgSerPheIleGlyAsnSerAspIleGlnSerLeuAspAsnTyrSerThrAlaSerSerHisSerGlyGlyProProGlnProSerAlaPheSerGluSerPheProSerSerValAlaGlyTyrGlyAspIleTyrLeuAsnAlaGlyProMetLeuPheSerGlyAspLysAspHisArgPheGluTyrSerHisGlyProIleAlaValLeuAlaAsnSerSerAspProSerThrGlyProGluSerThrHisProLeuProAlaLysMetHisAsnTyrAsnTyrGlyGlyAsnLeuGlnGluAsnProSerGlyProSerLeuMetHisGlyGlnThrTrpThrSerProAlaGlnGlyProGlyTyrSerGlnGlyTyrArgGlyHisIleSerThrSerThrGlyArgGlyArgGlyArgGlyLeuProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666146", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000181839.10:c.2251C>T" }, "RefSeq": { "hgvs": "NM_003718.5:c.2251C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000181839.4:p.Arg751Ter" }, "RefSeq": { "hgvs": "NP_003709.3:p.Arg751Ter" } } } } ], "type": "nucleotide" }