{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399996694", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.1346G>A (p.Trp449Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44172011C>T?assembly=hg19", "id": "chr17:g.44172011C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46094645C>T?assembly=hg38", "id": "chr17:g.46094645C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1200526030", "rs": 1200526030 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-46094645-C-T?dataset=gnomad_r4", "id": "17-46094645-C-T", "variant": "17:46094645 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 46094645, "referenceAllele": "C", "start": 46094644 } ], "hgvs": [ "NC_000017.11:g.46094645C>T", "CM000679.2:g.46094645C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 44172011, "referenceAllele": "C", "start": 44172010 } ], "hgvs": [ "NC_000017.10:g.44172011C>T", "CM000679.1:g.44172011C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41527828, "referenceAllele": "C", "start": 41527827 } ], "hgvs": [ "NC_000017.9:g.41527828C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 135730, "referenceAllele": "G", "start": 135729 } ], "hgvs": [ "NG_032784.1:g.135730G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005220" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2042, "referenceAllele": "G", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.7:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000387393.3:p.Trp449Ter", "hgvsWellDefined": "ENSP00000387393.3:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.1346G>A" }, "RefSeq": { "hgvs": "NM_015443.4:c.1346G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Trp449Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Trp449Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000571698.2:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000459330.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000459330.2:p.Trp449Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760665" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.6:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760699" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.6:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461812.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461812.2:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760743" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.6:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760759" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000577114.2:n.72G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760804" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638269.1:n.1590G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764438" }, { "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638275.1:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000492576.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000492576.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764443" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639150.1:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000491906.1:p.Trp27Ter", "hgvsWellDefined": "ENSP00000491906.1:p.Trp27Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764892" }, { "coordinates": [ { "allele": "A", "end": 1584, "referenceAllele": "G", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639375.1:n.1584G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764995" }, { "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "G", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639531.1:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000491765.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000491765.1:p.Trp449_Gly897del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765070" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639853.1:c.619G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765211" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "G", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000648792.1:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000497628.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000497628.1:p.Trp449_Arg1061delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770178" }, { "coordinates": [ { "allele": "A", "end": 1817, "referenceAllele": "G", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000262419.10:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000262419.6:p.Trp449Ter", "hgvsWellDefined": "ENSP00000262419.6:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251013" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.5:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000387393.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000387393.2:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292241" }, { "coordinates": [ { "allele": "A", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.5:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383091" }, { "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.5:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461812.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461812.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "G", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.1346G>A" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000577114.1:n.143G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384724" }, { "@id": "http://reg.genome.network/allele/PA2826185176", "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Trp449Ter", "hgvsWellDefined": "NP_001180394.1:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016402" }, { "@id": "http://reg.genome.network/allele/PA2826185953", "coordinates": [ { "allele": "A", "end": 1817, "referenceAllele": "G", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Trp449Ter", "hgvsWellDefined": "NP_001180395.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016403" }, { "@id": "http://reg.genome.network/allele/PA2573267497", "coordinates": [ { "allele": "A", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Trp449Ter", "hgvsWellDefined": "NP_056258.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034023" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Trp449Ter", "hgvsWellDefined": "XP_006721886.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074271" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Trp449Ter", "hgvsWellDefined": "XP_006721887.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074272" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522930.1:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091749" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522931.1:p.Trp449_Arg1071delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091750" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522932.1:p.Trp449_Arg1042delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091751" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "G", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522933.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091752" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.1:c.116G>A" ], "proteinEffect": { "hgvs": "XP_011522934.1:p.Trp39Ter", "hgvsWellDefined": "XP_011522934.1:p.Trp39_Arg695delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091753" }, { "coordinates": [ { "allele": "A", "end": 1599, "referenceAllele": "G", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Trp449Ter", "hgvsWellDefined": "XP_006721886.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540390" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Trp449Ter", "hgvsWellDefined": "XP_006721887.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540391" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522930.1:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547535" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522931.1:p.Trp449_Arg1071delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522932.1:p.Trp449_Arg1042delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Trp449Ter", "hgvsWellDefined": "XP_011522933.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.3:c.116G>A" ], "proteinEffect": { "hgvs": "XP_011522934.1:p.Trp39Ter", "hgvsWellDefined": "XP_011522934.1:p.Trp39_Arg695delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547539" }, { "coordinates": [ { "allele": "A", "end": 1599, "referenceAllele": "G", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Trp449Ter", "hgvsWellDefined": "XP_016879977.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "A", "end": 1714, "referenceAllele": "G", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.1346G>A" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Trp449Ter", "hgvsWellDefined": "XP_016879978.1:p.Trp449_Ser878delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA2826185953", "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "G", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Trp449Ter", "hgvsWellDefined": "NP_001180395.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA2573267497", "coordinates": [ { "allele": "A", "end": 2042, "referenceAllele": "G", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Trp449Ter", "hgvsWellDefined": "NP_056258.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.1346G>A" }, "RefSeq": { "hgvs": "NM_015443.4:c.1346G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Trp449Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Trp449Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185176", "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Trp449Ter", "hgvsWellDefined": "NP_001180394.1:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828814983", "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.1346G>A" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Trp449Ter", "hgvsWellDefined": "NP_001366127.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }