{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129400", "communityStandardTitle": [ "NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1200828", "active": true, "id": "COSM1200828" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39649[alleleid]", "alleleId": 39649, "preferredName": "NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30692", "RCV": [ "RCV000023670" ], "variationId": 30692 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-95546134-C-T", "id": "11-95546134-C-T", "variant": "11:95546134 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.95546134C>T?assembly=hg19", "id": "chr11:g.95546134C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.95812970C>T?assembly=hg38", "id": "chr11:g.95812970C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387906977", "rs": 387906977 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-95546134-C-T?dataset=gnomad_r2_1", "id": "11-95546134-C-T", "variant": "11:95546134 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-95812970-C-T?dataset=gnomad_r4", "id": "11-95812970-C-T", "variant": "11:95812970 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95812970, "referenceAllele": "C", "start": 95812969 } ], "hgvs": [ "NC_000011.10:g.95812970C>T", "CM000673.2:g.95812970C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95546134, "referenceAllele": "C", "start": 95546133 } ], "hgvs": [ "NC_000011.9:g.95546134C>T", "CM000673.1:g.95546134C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95185782, "referenceAllele": "C", "start": 95185781 } ], "hgvs": [ "NC_000011.8:g.95185782C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 27510, "referenceAllele": "C", "start": 27509 } ], "hgvs": [ "NG_029829.1:g.27510C>T", "LRG_526:g.27510C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004693" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000325542.10:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000317902.5:p.Arg81Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000325542.10:c.241C>T" }, "RefSeq": { "hgvs": "NM_014679.5:c.241C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317902.5:p.Arg81Ter" }, "RefSeq": { "hgvs": "NP_055494.2:p.Arg81Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000325486.9:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000317487.5:p.Arg81Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258496" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000325542.9:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000317902.5:p.Arg81Ter", "hgvsWellDefined": 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"ENSP00000441392.1:p.Arg54Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS360902" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000538095.1:c.*221C>T" ], "proteinEffect": { "hgvs": "ENSP00000443866.1:n.*221C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361129" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "C", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000538658.5:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000445706.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000445706.1:p.Arg82_Val270delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361438" }, { "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000539855.5:c.*20C>T" ], "proteinEffect": { "hgvs": "ENSP00000437422.1:n.*20C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362088" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000540830.5:c.*5C>T" ], "proteinEffect": { "hgvs": "ENSP00000440996.1:n.*5C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362613" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000541150.5:c.214C>T" ], "proteinEffect": { "hgvs": "ENSP00000443436.1:p.Arg72Ter", "hgvsWellDefined": "ENSP00000443436.1:p.Arg73_Tyr491delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362780" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000541365.5:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000445821.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000445821.1:p.Arg54Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS362889" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000544522.5:c.214C>T" ], "proteinEffect": { "hgvs": "ENSP00000438065.1:p.Arg72Ter", "hgvsWellDefined": "ENSP00000438065.1:p.Arg72_Glu198del" }, "referenceSequence": "http://reg.genome.network/refseq/RS364618" }, { "@id": "http://reg.genome.network/allele/PA2826336799", "coordinates": [ { "allele": "T", "end": 523, 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"NP_001230705.1:p.Arg73_Tyr491delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018605" }, { "@id": "http://reg.genome.network/allele/PA2826337626", "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.1:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg81Ter", "hgvsWellDefined": "NP_001230706.1:p.Arg82_Tyr474delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018606" }, { "@id": "http://reg.genome.network/allele/PA129402", "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_014679.4:c.241C>T" ], "proteinEffect": { "hgvs": "NP_055494.2:p.Arg81Ter", "hgvsWellDefined": "NP_055494.2:p.Arg82_Tyr500delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033365" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:p.Arg81Ter", "hgvsWellDefined": "XP_006719008.1:p.Arg82_Tyr461delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072859" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg81Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg82_Tyr438delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072860" }, { "@id": "http://reg.genome.network/allele/PA2828099599", "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.1:c.160C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg54Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg55_Tyr473delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523423" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.3:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:p.Arg81Ter", "hgvsWellDefined": "XP_006719008.1:p.Arg82_Tyr461delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539742" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.3:c.241C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg81Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg82_Tyr438delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539743" }, { "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018592.1:c.214C>T" ], "proteinEffect": { "hgvs": "XP_016874081.1:p.Arg72Ter", "hgvsWellDefined": "XP_016874081.1:p.Arg73_Tyr491delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570495" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018593.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_016874082.1:p.Arg81Ter", "hgvsWellDefined": "XP_016874082.1:p.Arg82_Tyr435delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570496" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018594.2:c.241C>T" ], "proteinEffect": { "hgvs": "XP_016874083.1:p.Arg81Ter", "hgvsWellDefined": "XP_016874083.1:p.Arg82_Tyr399delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570497" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_024448779.1:c.160C>T" ], "proteinEffect": { "hgvs": "XP_024304547.1:p.Arg54Ter", "hgvsWellDefined": "XP_024304547.1:p.Arg55_Tyr434delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582346" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XR_001748050.2:n.469C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596115" }, { "@id": "http://reg.genome.network/allele/PA129402", "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_014679.5:c.241C>T" ], "proteinEffect": { "hgvs": "NP_055494.2:p.Arg81Ter", "hgvsWellDefined": "NP_055494.2:p.Arg82_Tyr500delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000325542.10:c.241C>T" }, "RefSeq": { "hgvs": "NM_014679.5:c.241C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317902.5:p.Arg81Ter" }, "RefSeq": { "hgvs": "NP_055494.2:p.Arg81Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826336799", "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243776.2:c.214C>T" ], "proteinEffect": { "hgvs": "NP_001230705.1:p.Arg72Ter", "hgvsWellDefined": "NP_001230705.1:p.Arg73_Tyr491delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714519" }, { "@id": "http://reg.genome.network/allele/PA2826337626", "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.2:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg81Ter", "hgvsWellDefined": "NP_001230706.1:p.Arg82_Tyr474delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714520" }, { "@id": "http://reg.genome.network/allele/PA2828099599", "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "C", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.2:c.160C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg54Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg55_Tyr473delinsLeuGluLeuGluArgIleGlnAlaGluGluSerValLysThrLeuSerArgGluThrIleGluTyrLysLysValLeuAspGluGlnIleGlnGluArgGluAsnSerLysAsnGluGluSerLysHisAsnGlnGluLeuThrSerGlnLeuLeuAlaAlaGluAsnLysCysAsnLeuLeuGluLysGlnLeuGluTyrMetArgAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720762" } ], "type": "nucleotide" }