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"gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.1099dup" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Arg367ProfsTer?", "hgvsWellDefined": "NP_065873.2:p.[Arg367delinsProCys;Gln369_Thr370delinsAspGly;Lys372_Leu376delinsAlaArgGlyProVal;Val378_Ser380delinsGln;Lys382_Ile383delinsProGln;Leu385_Phe389delinsArgProSerHisGly;Asn391Pro;Phe393_His396delinsArgValLeuArgPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.1099dup" }, "RefSeq": { "hgvs": "NM_020822.3:c.1099dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Arg367ProfsTer?" }, "RefSeq": { "hgvs": "NP_065873.2:p.Arg367ProfsTer?" } } } }, { "coordinates": [ { "allele": "C", "end": 1038, "referenceAllele": "", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.964dup" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Arg322ProfsTer?", "hgvsWellDefined": "NP_001258932.1:p.[Arg322delinsProCys;Gln324_Thr325delinsAspGly;Lys327_Leu331delinsAlaArgGlyProVal;Val333_Ser335delinsGln;Lys337_Ile338delinsProGln;Leu340_Phe344delinsArgProSerHisGly;Asn346Pro;Phe348_His351delinsArgValLeuArgPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }