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"NP_056258.1:p.Trp934_Arg1105delinsThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.2801G>A" }, "RefSeq": { "hgvs": "NM_015443.4:c.2801G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Trp934Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Trp934Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185550", "coordinates": [ { "allele": "A", "end": 3048, "referenceAllele": "G", "start": 3047 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.2798G>A" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Trp933Ter", "hgvsWellDefined": "NP_001180394.1:p.Trp933_Arg1104delinsThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828815357", "coordinates": [ { "allele": "A", "end": 3051, "referenceAllele": "G", "start": 3050 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.2801G>A" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Trp934Ter", "hgvsWellDefined": "NP_001366127.1:p.Trp934_Arg1105delinsThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }