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}, "referenceSequence": "http://reg.genome.network/refseq/RS759666" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "C", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "ENST00000674539.1:c.83C>A" ], "proteinEffect": { "hgvs": "ENSP00000502834.1:p.Ser28Ter", "hgvsWellDefined": "ENSP00000502834.1:p.Ser28_Ser146delinsArgLeuAspThrGlyAsnSerMetThrLysTyrThrGluLysLeuGluGluIleLysLysAsnTyrArgTyrLysLysAspGluLeuPheLysArgLeuLysValThrThrPheAlaGlnLeuIleIleGlnValAlaSerLeuSerAspGlnThrLeuGluValThrAlaGluGluIleGlnArgLeuGluAspAsnAspSerAlaAlaSerAspProAspAlaGluThrThrAlaArgThrAsnGlyLysGlyAsnProGlyGluGlnSerProSerProGluGlnPheIleAsnAsnAlaGlyAlaGlyAspSerSerArgSerThrLeuGlnArgProThrGluProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774491" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "C", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775004" }, { "coordinates": [ { "allele": "A", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "ENST00000675168.1:c.83C>A" ], "proteinEffect": { "hgvs": "ENSP00000501563.1:p.Ser28Ter", "hgvsWellDefined": 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"referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_001257160.1:c.83C>A" ], "proteinEffect": { "hgvs": "NP_001244089.1:p.Ser28Ter", "hgvsWellDefined": "NP_001244089.1:p.Ser28_Phe54delinsArgLeuAspThrGlyAlaCysValTyrLeuThrSerSerProAlaLeuProAspCysAlaMetAsnGlyLeuCysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019551" }, { "@id": "http://reg.genome.network/allele/PA916067737", "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_018718.2:c.83C>A" ], "proteinEffect": { "hgvs": "NP_061188.1:p.Ser28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS035881" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NR_046443.1:n.327C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051696" }, { "coordinates": [ { "allele": "A", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "XM_011516708.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011515010.1:p.Ser43Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083908" }, { "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "XM_011516709.1:c.-137C>A" ], "proteinEffect": { "hgvs": "XP_011515011.1:n.-137C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083909" }, { "coordinates": [ { "allele": "A", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "XM_011516712.1:c.128C>A" ], "proteinEffect": { "hgvs": "XP_011515014.1:p.Ser43Ter", "hgvsWellDefined": 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"C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "XM_011516709.3:c.-137C>A" ], "proteinEffect": { "hgvs": "XP_011515011.1:n.-137C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544273" }, { "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "C", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "XM_024447004.1:c.44C>A" ], "proteinEffect": { "hgvs": "XP_024302772.1:p.Ser15Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580631" }, { "@id": "http://reg.genome.network/allele/PA916067737", "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_018718.3:c.83C>A" ], "proteinEffect": { "hgvs": "NP_061188.1:p.Ser28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS669738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000223208.10:c.83C>A" }, "RefSeq": { "hgvs": "NM_018718.3:c.83C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000223208.4:p.Ser28Ter" }, "RefSeq": { "hgvs": "NP_061188.1:p.Ser28Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826434125", "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_001257158.2:c.83C>A" ], "proteinEffect": { "hgvs": "NP_001244087.1:p.Ser28Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_001257160.2:c.83C>A" ], "proteinEffect": { "hgvs": "NP_001244089.1:p.Ser28Ter", "hgvsWellDefined": "NP_001244089.1:p.Ser28_Phe54delinsArgLeuAspThrGlyAlaCysValTyrLeuThrSerSerProAlaLeuProAspCysAlaMetAsnGlyLeuCysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680698" }, { "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NR_046443.2:n.133C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702502" }, { "@id": "http://reg.genome.network/allele/PA2826434295", "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN012370", "geneNCBI_id": 95681, "geneSymbol": "CEP41", "hgvs": [ "NM_001257159.2:c.83C>A" ], "proteinEffect": { "hgvs": "NP_001244088.1:p.Ser28Ter", "hgvsWellDefined": "NP_001244088.1:p.Ser28_Lys285delinsArgLeuAspThrAspTyrArgTyrLysLysAspGluLeuPheLysArgLeuLysValThrThrPheAlaGlnLeuIleIleGlnValAlaSerLeuSerAspGlnThrLeuGluValThrAlaGluGluIleGlnArgLeuGluAspAsnAspSerAlaAlaSerAspProAspAlaGluThrThrAlaArgThrAsnGlyLysGlyAsnProGlyGluGlnSerProSerProGluGlnPheIleAsnAsnAlaGlyAlaGlyAspSerSerArgSerThrLeuGlnSerValIleSerGlyValGlyGluLeuAspLeuAspLysGlyProValLysLysAlaGluProHisThrLysAspLysProTyrProAspCysProPheLeuLeuLeuAspValArgAspArgAspSerTyrGlnGlnCysHisIleValGlyAlaTyrSerTyrProIleAlaThrLeuSerArgThrMetAsnProTyrSerAsnAspIleLeuGluTyrLysAsnAlaHisGlyLysIleIleIleLeuTyrAspAspAspGluArgLeuAlaSerGlnAlaAlaThrThrMetCysGluArgGlyPheGluAsnLeuPheMetLeuSerGlyGlyArgLeuAsnGlnAlaAsnSerSerGlyArgGluSerLysValProGlyAlaArgSerAlaGlnAsnLeuProGlyGlyGlyProAlaSerHisSerAsnProArgSerLeuSerSerGlyHisLeuGlnGlyLysProTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714866" } ], "type": "nucleotide" }