{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342804", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40355[alleleid]", "alleleId": 40355, "preferredName": "NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31695", "RCV": [ "RCV000024373", "RCV003362664" ], "variationId": 31695 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44248594G>A?assembly=hg19", "id": "chr17:g.44248594G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46171228G>A?assembly=hg38", "id": "chr17:g.46171228G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/281865468", "rs": 281865468 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 46171228, "referenceAllele": "G", "start": 46171227 } ], "hgvs": [ "NC_000017.11:g.46171228G>A", "CM000679.2:g.46171228G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 44248594, "referenceAllele": "G", "start": 44248593 } ], "hgvs": [ "NC_000017.10:g.44248594G>A", "CM000679.1:g.44248594G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41604371, "referenceAllele": "G", "start": 41604370 } ], "hgvs": [ "NC_000017.9:g.41604371G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 59147, "referenceAllele": "C", "start": 59146 } ], "hgvs": [ "NG_032784.1:g.59147C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005220" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.7:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000387393.3:p.Gln306Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764443" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638902.1:n.1020C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764762" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639099.1:n.1166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764866" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 52443, "referenceAllele": "C", "start": 267, "startIntronDirection": "+", "startIntronOffset": 52442 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639150.1:c.23+52443C>T" ], "proteinEffect": { "hgvs": "ENSP00000491906.1:n.23+52443C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764892" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639356.1:n.1166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764986" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639375.1:n.1154C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764995" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639531.1:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000491765.1:p.Gln306Ter", "hgvsWellDefined": "ENSP00000491765.1:p.Gln306_Gly897del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765070" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000639853.1:c.189C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765211" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000648792.1:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000497628.1:p.Gln306Ter", "hgvsWellDefined": "ENSP00000497628.1:p.Gln306_Arg1061delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770178" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000262419.10:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000262419.6:p.Gln306Ter", "hgvsWellDefined": "ENSP00000262419.6:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251013" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000387393.2:p.Gln306Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS292241" }, { "coordinates": [ { "allele": "T", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Gln306Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383091" }, { "coordinates": [ { "allele": "T", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000461812.1:p.Gln306Ter", "hgvsWellDefined": "ENSP00000461812.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Gln306Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Gln306_Arg1041delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "@id": "http://reg.genome.network/allele/PA2826185068", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Gln306Ter", "hgvsWellDefined": "NP_001180394.1:p.Gln306_Arg1104delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016402" }, { "@id": "http://reg.genome.network/allele/PA342805", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Gln306Ter", "hgvsWellDefined": "NP_001180395.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016403" }, { "@id": "http://reg.genome.network/allele/PA915983780", "coordinates": [ { "allele": "T", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.916C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Gln306Ter", "hgvsWellDefined": "NP_056258.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034023" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Gln306Ter", "hgvsWellDefined": "XP_006721886.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074271" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.916C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Gln306Ter", "hgvsWellDefined": "XP_006721887.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074272" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522930.1:p.Gln306_Arg1104delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091749" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522931.1:p.Gln306_Arg1071delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091750" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522932.1:p.Gln306_Arg1042delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091751" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522933.1:p.Gln306_Arg1041delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091752" }, { "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.916C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Gln306Ter", "hgvsWellDefined": "XP_006721886.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540390" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.916C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Gln306Ter", "hgvsWellDefined": "XP_006721887.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540391" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522930.1:p.Gln306_Arg1104delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547535" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522931.1:p.Gln306_Arg1071delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522932.1:p.Gln306_Arg1042delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Gln306Ter", "hgvsWellDefined": "XP_011522933.1:p.Gln306_Arg1041delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.916C>T" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Gln306Ter", "hgvsWellDefined": "XP_016879977.1:p.Gln306_Arg1041delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Gln306Ter", "hgvsWellDefined": "XP_016879978.1:p.Gln306_Ser878delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA342805", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Gln306Ter", "hgvsWellDefined": "NP_001180395.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA915983780", "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.916C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Gln306Ter", "hgvsWellDefined": "NP_056258.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.916C>T" }, "RefSeq": { "hgvs": "NM_015443.4:c.916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Gln306Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Gln306Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185068", "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Gln306Ter", "hgvsWellDefined": "NP_001180394.1:p.Gln306_Arg1104delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828814874", "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Gln306Ter", "hgvsWellDefined": "NP_001366127.1:p.Gln306_Arg1105delinsValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }