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"XP_011522931.1:p.Arg790_Arg1071delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Arg761Ter", "hgvsWellDefined": "XP_011522932.1:p.Arg761_Arg1042delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Arg761Ter", "hgvsWellDefined": "XP_011522933.1:p.Arg761_Arg1041delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011522934.1:p.Arg414Ter", "hgvsWellDefined": "XP_011522934.1:p.Arg414_Arg695delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547539" }, { "coordinates": [ { "allele": "T", "end": 2534, "referenceAllele": "C", "start": 2533 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Arg761Ter", "hgvsWellDefined": "XP_016879977.1:p.Arg761_Arg1041delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "T", "end": 2736, "referenceAllele": "C", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.2368C>T" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Arg790Ter", "hgvsWellDefined": "XP_016879978.1:p.Arg790_Ser878delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA2826186169", "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.2470C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Arg824Ter", "hgvsWellDefined": "NP_001180395.1:p.Arg824_Arg1105delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA2573267765", "coordinates": [ { "allele": "T", "end": 3166, "referenceAllele": "C", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.2470C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Arg824Ter", "hgvsWellDefined": "NP_056258.1:p.Arg824_Arg1105delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.2470C>T" }, "RefSeq": { "hgvs": "NM_015443.4:c.2470C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Arg824Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Arg824Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185466", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.2470C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Arg824Ter", "hgvsWellDefined": "NP_001180394.1:p.Arg824_Arg1104delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828815273", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.2470C>T" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Arg824Ter", "hgvsWellDefined": "NP_001366127.1:p.Arg824_Arg1105delinsGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }