{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399996685", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679893[alleleid]", "alleleId": 1679893, "preferredName": "NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687601", "RCV": [ "RCV002251283" ], "variationId": 1687601 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44172010C>T?assembly=hg19", "id": "chr17:g.44172010C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46094644C>T?assembly=hg38", "id": "chr17:g.46094644C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2146947345", "rs": 2146947345 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 46094644, "referenceAllele": "C", "start": 46094643 } ], "hgvs": [ "NC_000017.11:g.46094644C>T", "CM000679.2:g.46094644C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 44172010, "referenceAllele": "C", "start": 44172009 } ], "hgvs": [ "NC_000017.10:g.44172010C>T", "CM000679.1:g.44172010C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41527827, "referenceAllele": "C", "start": 41527826 } ], "hgvs": [ "NC_000017.9:g.41527827C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 135731, "referenceAllele": "G", "start": 135730 } ], "hgvs": [ "NG_032784.1:g.135731G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005220" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.7:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000387393.3:p.Trp449Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.1347G>A" }, "RefSeq": { "hgvs": "NM_015443.4:c.1347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Trp449Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Trp449Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1588, "referenceAllele": "G", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000571698.2:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000459330.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000459330.2:p.Trp449Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760665" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.6:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760699" }, { "coordinates": [ { "allele": "A", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.6:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461812.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461812.2:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760743" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.6:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760759" }, { "coordinates": [ { "allele": "A", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000577114.2:n.73G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760804" }, { "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638269.1:n.1591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764438" }, { "coordinates": [ { "allele": "A", "end": 2014, "referenceAllele": "G", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638275.1:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000492576.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000492576.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764443" }, { "coordinates": [ { "allele": "A", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639150.1:c.81G>A" ], "proteinEffect": { "hgvs": "ENSP00000491906.1:p.Trp27Ter", "hgvsWellDefined": "ENSP00000491906.1:p.Trp27Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764892" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639375.1:n.1585G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764995" }, { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639531.1:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000491765.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000491765.1:p.Trp449_Gly897del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765070" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639853.1:c.620G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765211" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000648792.1:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000497628.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000497628.1:p.Trp449_Arg1061delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770178" }, { "coordinates": [ { "allele": "A", "end": 1818, "referenceAllele": "G", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000262419.10:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000262419.6:p.Trp449Ter", "hgvsWellDefined": "ENSP00000262419.6:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251013" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.5:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000387393.2:p.Trp449Ter", "hgvsWellDefined": "ENSP00000387393.2:p.Trp449_Arg1104delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292241" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.5:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383091" }, { "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "G", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.5:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461812.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461812.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.1347G>A" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Trp449Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Trp449_Arg1041delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "coordinates": [ { "allele": "A", "end": 144, "referenceAllele": "G", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000577114.1:n.144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384724" }, { "@id": "http://reg.genome.network/allele/PA2826185176", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.1347G>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": 1818, "referenceAllele": "G", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.1347G>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": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.1347G>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": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.1347G>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": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.1347G>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": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.1347G>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": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.1347G>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": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.1347G>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": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.1347G>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": 201, "referenceAllele": "G", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.1:c.117G>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": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.1347G>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": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.1347G>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": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.1347G>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": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.1347G>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": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.1347G>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": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.1347G>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": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524632.3:c.117G>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": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.1347G>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": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.1347G>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": 1800, "referenceAllele": "G", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.1347G>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": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.1347G>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.1347G>A" }, "RefSeq": { "hgvs": "NM_015443.4:c.1347G>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": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.1347G>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": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.1347G>A" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Trp449Ter", "hgvsWellDefined": "NP_001366127.1:p.Trp449_Arg1105delinsAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }