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], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370135.1:c.2721_2728delinsCACA" ], "proteinEffect": { "hgvs": "NP_001357064.1:p.Met909GlufsTer24", "hgvsWellDefined": "NP_001357064.1:p.[Met909_Gly911delinsGluAlaAla;Ile913_Leu928delinsValGluThrAlaLeuHisArgThrAlaAlaProIleAla;Ser931_Ala939delinsProProAlaVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692159" }, { "coordinates": [ { "allele": "CACA", "end": 5595, "referenceAllele": "TACTATGG", "start": 5587 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370136.1:c.5064_5071delinsCACA" ], "proteinEffect": { "hgvs": "NP_001357065.1:p.Met1690GlufsTer24", "hgvsWellDefined": "NP_001357065.1:p.[Met1690_Gly1692delinsGluAlaAla;Ile1694_Leu1709delinsValGluThrAlaLeuHisArgThrAlaAlaProIleAla;Ser1712_Ala1720delinsProProAlaVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692160" }, { 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}, { "coordinates": [ { "allele": "CACA", "end": 4520, "referenceAllele": "TACTATGG", "start": 4512 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370144.1:c.3999_4006delinsCACA" ], "proteinEffect": { "hgvs": "NP_001357073.1:p.Met1335GlufsTer24", "hgvsWellDefined": "NP_001357073.1:p.[Met1335_Gly1337delinsGluAlaAla;Ile1339_Leu1354delinsValGluThrAlaLeuHisArgThrAlaAlaProIleAla;Ser1357_Ala1365delinsProProAlaVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692168" }, { "coordinates": [ { "allele": "CACA", "end": 5036, "referenceAllele": "TACTATGG", "start": 5028 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.2:c.4515_4522delinsCACA" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Met1507GlufsTer24", "hgvsWellDefined": 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