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], "proteinEffect": { "hgvs": "ENSP00000438065.1:p.Arg142Ter", "hgvsWellDefined": "ENSP00000438065.1:p.Arg142_Glu198del" }, "referenceSequence": "http://reg.genome.network/refseq/RS364618" }, { "@id": "http://reg.genome.network/allele/PA2826336927", "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243776.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001230705.1:p.Arg142Ter", "hgvsWellDefined": "NP_001230705.1:p.Arg142_Tyr491delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018605" }, { "@id": "http://reg.genome.network/allele/PA2826337724", "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.1:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg151Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS018606" }, { "@id": "http://reg.genome.network/allele/PA916016271", "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_014679.4:c.451C>T" ], "proteinEffect": { "hgvs": "NP_055494.2:p.Arg151Ter", "hgvsWellDefined": "NP_055494.2:p.Arg151_Tyr500delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033365" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:p.Arg151Ter", "hgvsWellDefined": "XP_006719008.1:p.Arg151_Tyr461delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072859" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg151Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg151_Tyr438delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072860" }, { "@id": "http://reg.genome.network/allele/PA2828099632", "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.1:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg124Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg124_Tyr473delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523423" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.3:c.451C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:p.Arg151Ter", "hgvsWellDefined": "XP_006719008.1:p.Arg151_Tyr461delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539742" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.3:c.451C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg151Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg151_Tyr438delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539743" }, { "coordinates": [ { "allele": "T", "end": 1879, "referenceAllele": "C", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018592.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_016874081.1:p.Arg142Ter", "hgvsWellDefined": "XP_016874081.1:p.Arg142_Tyr491delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570495" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018593.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_016874082.1:p.Arg151Ter", "hgvsWellDefined": "XP_016874082.1:p.Arg151_Tyr435delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570496" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018594.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_016874083.1:p.Arg151Ter", "hgvsWellDefined": "XP_016874083.1:p.Arg151_Tyr399delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570497" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_024448779.1:c.370C>T" ], "proteinEffect": { "hgvs": "XP_024304547.1:p.Arg124Ter", "hgvsWellDefined": "XP_024304547.1:p.Arg124_Tyr434delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582346" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XR_001748050.2:n.679C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596115" }, { "@id": "http://reg.genome.network/allele/PA916016271", "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_014679.5:c.451C>T" ], "proteinEffect": { "hgvs": "NP_055494.2:p.Arg151Ter", "hgvsWellDefined": "NP_055494.2:p.Arg151_Tyr500delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000325542.10:c.451C>T" }, "RefSeq": { "hgvs": "NM_014679.5:c.451C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317902.5:p.Arg151Ter" }, "RefSeq": { "hgvs": "NP_055494.2:p.Arg151Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826336927", "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243776.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001230705.1:p.Arg142Ter", "hgvsWellDefined": "NP_001230705.1:p.Arg142_Tyr491delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714519" }, { "@id": "http://reg.genome.network/allele/PA2826337724", "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg151Ter", "hgvsWellDefined": "NP_001230706.1:p.Arg151_Tyr474delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714520" }, { "@id": "http://reg.genome.network/allele/PA2828099632", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "C", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.2:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg124Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg124_Tyr473delinsAsnMetIleLysHisAlaGluMetGluArgThrSerValLeuGluLysGlnValSerLeuGluArgGluArgGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720762" } ], "type": "nucleotide" }