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"coordinates": [ { "allele": "", "end": 1129, "referenceAllele": "CAGC", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351499.2:c.262_265del" ], "proteinEffect": { "hgvs": "NP_001338428.1:p.Gln88LysfsTer19", "hgvsWellDefined": "NP_001338428.1:p.[Gln88_Gly94delinsLysLeu;Glu96_Val97del;Ile99_Lys101delinsMet;Pro103_His105delinsTrpLys;Val107_Ser113delinsSerPheGln;Phe115del;Glu117Gln;Cys118_Arg119insThrLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS688851" }, { "coordinates": [ { "allele": "", "end": 994, "referenceAllele": "CAGC", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.262_265del" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Gln88LysfsTer19", "hgvsWellDefined": "NP_001338429.1:p.[Gln88_Gly94delinsLysLeu;Glu96_Val97del;Ile99_Lys101delinsMet;Pro103_His105delinsTrpLys;Val107_Ser113delinsSerPheGln;Phe115del;Glu117Gln;Cys118_Arg119insThrLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS688852" }, { "coordinates": [ { "allele": "", "end": 902, "referenceAllele": "CAGC", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351501.2:c.262_265del" ], "proteinEffect": { "hgvs": "NP_001338430.1:p.Gln88LysfsTer19", "hgvsWellDefined": "NP_001338430.1:p.[Gln88_Gly94delinsLysLeu;Glu96_Val97del;Ile99_Lys101delinsMet;Pro103_His105delinsTrpLys;Val107_Ser113delinsSerPheGln;Phe115del;Glu117Gln;Cys118_Arg119insThrLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS688853" }, { "coordinates": [ { "allele": "", "end": 1222, "referenceAllele": "CAGC", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351502.2:c.262_265del" ], "proteinEffect": { "hgvs": "NP_001338431.1:p.Gln88LysfsTer19", "hgvsWellDefined": "NP_001338431.1:p.[Gln88_Gly94delinsLysLeu;Glu96_Val97del;Ile99_Lys101delinsMet;Pro103_His105delinsTrpLys;Val107_Ser113delinsSerPheGln;Phe115del;Glu117Gln;Cys118_Arg119insThrLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS688854" }, { "coordinates": [ { "allele": "", "end": 876, "referenceAllele": "CAGC", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.873_876del" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "", "end": 784, "referenceAllele": "CAGC", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.781_784del" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }