{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342801", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM980250" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40353[alleleid]", "alleleId": 40353, "preferredName": "NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31693", "RCV": [ "RCV000024371", "RCV000523815", "RCV001255390" ], "variationId": 31693 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44143935G>A?assembly=hg19", "id": "chr17:g.44143935G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46066569G>A?assembly=hg38", "id": "chr17:g.46066569G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/281865469", "rs": 281865469 } ], "gnomAD_4": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS760743" }, { "coordinates": [ { "allele": "T", "end": 2066, "referenceAllele": "C", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.6:c.1816C>T" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Arg606Ter", "hgvsWellDefined": 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"ENSP00000262419.6:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251013" }, { "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "C", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.5:c.1816C>T" ], "proteinEffect": { "hgvs": "ENSP00000387393.2:p.Arg606Ter", "hgvsWellDefined": "ENSP00000387393.2:p.Arg606_Arg1104delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292241" }, { "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.5:c.1816C>T" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Arg606Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383091" }, { "coordinates": [ { "allele": "T", "end": 2043, "referenceAllele": "C", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.5:c.1816C>T" ], "proteinEffect": { "hgvs": "ENSP00000461812.1:p.Arg606Ter", "hgvsWellDefined": "ENSP00000461812.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.1816C>T" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Arg606Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Arg606_Arg1041delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000577114.1:n.613C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS384724" }, { "@id": "http://reg.genome.network/allele/PA2826185301", "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "C", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Arg606Ter", "hgvsWellDefined": "NP_001180394.1:p.Arg606_Arg1104delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016402" }, { "@id": "http://reg.genome.network/allele/PA342802", "coordinates": [ { "allele": "T", "end": 2287, "referenceAllele": "C", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Arg606Ter", "hgvsWellDefined": "NP_001180395.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016403" }, { "@id": "http://reg.genome.network/allele/PA915983966", "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Arg606Ter", "hgvsWellDefined": "NP_056258.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034023" }, { "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "C", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Arg606Ter", "hgvsWellDefined": "XP_006721886.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074271" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "C", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Arg606Ter", "hgvsWellDefined": "XP_006721887.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074272" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "C", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522930.1:p.Arg606_Arg1104delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091749" }, { "coordinates": [ { "allele": "T", "end": 2162, "referenceAllele": "C", "start": 2161 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Arg572Ter", "hgvsWellDefined": "XP_011522931.1:p.Arg572_Arg1071delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091750" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "C", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522932.1:p.Arg606_Arg1042delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091751" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "C", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522933.1:p.Arg606_Arg1041delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091752" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.1:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011522934.1:p.Arg196Ter", "hgvsWellDefined": "XP_011522934.1:p.Arg196_Arg695delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091753" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "C", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Arg606Ter", "hgvsWellDefined": "XP_006721886.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540390" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Arg606Ter", "hgvsWellDefined": "XP_006721887.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540391" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522930.1:p.Arg606_Arg1104delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547535" }, { "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "C", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Arg572Ter", "hgvsWellDefined": "XP_011522931.1:p.Arg572_Arg1071delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522932.1:p.Arg606_Arg1042delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Arg606Ter", "hgvsWellDefined": "XP_011522933.1:p.Arg606_Arg1041delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.3:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011522934.1:p.Arg196Ter", "hgvsWellDefined": "XP_011522934.1:p.Arg196_Arg695delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547539" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "C", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Arg606Ter", "hgvsWellDefined": "XP_016879977.1:p.Arg606_Arg1041delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "C", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Arg572Ter", "hgvsWellDefined": "XP_016879978.1:p.Arg572_Ser878delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA342802", "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "C", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Arg606Ter", "hgvsWellDefined": "NP_001180395.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA915983966", "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Arg606Ter", "hgvsWellDefined": "NP_056258.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.1816C>T" }, "RefSeq": { "hgvs": "NM_015443.4:c.1816C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Arg606Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Arg606Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185301", "coordinates": [ { "allele": "T", "end": 2066, "referenceAllele": "C", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Arg606Ter", "hgvsWellDefined": "NP_001180394.1:p.Arg606_Arg1104delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828815109", "coordinates": [ { "allele": "T", "end": 2066, "referenceAllele": "C", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.1816C>T" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Arg606Ter", "hgvsWellDefined": "NP_001366127.1:p.Arg606_Arg1105delinsProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }