{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382821939", "communityStandardTitle": [ "NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=963721[alleleid]", "alleleId": 963721, "preferredName": "NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/975729", "RCV": [ "RCV001252545" ], "variationId": 975729 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118376446C>A?assembly=hg19", "id": "chr11:g.118376446C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118505731C>A?assembly=hg38", "id": "chr11:g.118505731C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1950569353", "rs": 1950569353 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 118505731, "referenceAllele": "C", "start": 118505730 } ], "hgvs": [ "NC_000011.10:g.118505731C>A", "CM000673.2:g.118505731C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 118376446, "referenceAllele": "C", "start": 118376445 } ], "hgvs": [ "NC_000011.9:g.118376446C>A", "CM000673.1:g.118376446C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 117881656, "referenceAllele": "C", "start": 117881655 } ], "hgvs": [ "NC_000011.8:g.117881656C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 74242, "referenceAllele": "C", "start": 74241 } ], "hgvs": [ "NG_027813.1:g.74242C>A", "LRG_613:g.74242C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003978" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000531904.7:c.9938C>A" ], "proteinEffect": { "hgvs": "ENSP00000432391.3:p.Ser3313Ter", "hgvsWellDefined": "ENSP00000432391.3:p.Ser3314_Asn4005delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914243" }, { "coordinates": [ { "allele": "A", "end": 9985, "referenceAllele": "C", "start": 9984 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000710560.1:c.9929C>A" ], "proteinEffect": { "hgvs": "ENSP00000518343.1:p.Ser3310Ter", "hgvsWellDefined": "ENSP00000518343.1:p.Ser3311_Asn4002delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914540" }, { "coordinates": [ { "allele": "A", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000649878.2:c.3878C>A" ], "proteinEffect": { "hgvs": "ENSP00000497891.2:p.Ser1293Ter", "hgvsWellDefined": "ENSP00000497891.2:p.Ser1294_Lys1633delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlySerGlyAspProLysSerSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826796" }, { "coordinates": [ { "allele": "A", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000685397.1:c.3878C>A" ], "proteinEffect": { "hgvs": "ENSP00000509586.1:p.Ser1293Ter", "hgvsWellDefined": "ENSP00000509586.1:p.Ser1293Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830047" }, { "coordinates": [ { "allele": "A", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000686370.1:c.3878C>A" ], "proteinEffect": { "hgvs": "ENSP00000509179.1:p.Ser1293Ter", "hgvsWellDefined": "ENSP00000509179.1:p.Ser1293Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830534" }, { "coordinates": [ { "allele": "A", "end": 4136, "referenceAllele": "C", "start": 4135 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000689424.1:c.4136C>A" ], "proteinEffect": { "hgvs": "ENSP00000509852.1:p.Ser1379Ter", "hgvsWellDefined": "ENSP00000509852.1:p.Ser1379_Gly1684del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832161" }, { "coordinates": [ { "allele": "A", "end": 9919, "referenceAllele": "C", "start": 9918 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000691053.1:c.9911C>A" ], "proteinEffect": { "hgvs": "ENSP00000509168.1:p.Ser3304Ter", "hgvsWellDefined": "ENSP00000509168.1:p.Ser3305_Asn3996delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833016" }, { "coordinates": [ { "allele": "A", "end": 9853, "referenceAllele": "C", "start": 9852 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.10:c.9830C>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Ser3277Ter", "hgvsWellDefined": "ENSP00000374157.5:p.Ser3278_Asn3969delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752814" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534085.2:n.118C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759379" }, { "coordinates": [ { "allele": "A", "end": 9860, "referenceAllele": "C", "start": 9859 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.8:c.9839C>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.2:p.Ser3280Ter", "hgvsWellDefined": "ENSP00000436786.2:p.Ser3281_Asn3972delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759393", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.9839C>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.9839C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Ser3280Ter" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Ser3280Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9716, "referenceAllele": "C", "start": 9715 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000649699.1:c.9716C>A" ], "proteinEffect": { "hgvs": "ENSP00000496927.1:p.Ser3239Ter", "hgvsWellDefined": "ENSP00000496927.1:p.Ser3240_Asn3931delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770690" }, { "coordinates": [ { "allele": "A", "end": 9830, "referenceAllele": "C", "start": 9829 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.9:c.9830C>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Ser3277Ter", "hgvsWellDefined": "ENSP00000374157.5:p.Ser3278_Asn3969delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274225" }, { "coordinates": [ { "allele": "A", "end": 9862, "referenceAllele": "C", "start": 9861 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.5:c.9839C>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.1:p.Ser3280Ter", "hgvsWellDefined": "ENSP00000436786.1:p.Ser3281_Asn3972delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS358979" }, { "@id": "http://reg.genome.network/allele/PA1139687032", "coordinates": [ { "allele": "A", "end": 9862, "referenceAllele": "C", "start": 9861 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.1:c.9839C>A", "LRG_613t1:c.9839C>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Ser3280Ter", "hgvsWellDefined": "NP_001184033.1:p.Ser3281_Asn3972delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016695" }, { "@id": "http://reg.genome.network/allele/PA2829634462", "coordinates": [ { "allele": "A", "end": 9853, "referenceAllele": "C", "start": 9852 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.3:c.9830C>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Ser3277Ter", "hgvsWellDefined": "NP_005924.2:p.Ser3278_Asn3969delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030989" }, { "coordinates": [ { "allele": "A", "end": 7337, "referenceAllele": "C", "start": 7336 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.2:c.7322C>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Ser2441Ter", "hgvsWellDefined": "XP_006718902.2:p.Ser2442_Asn3133delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072816" }, { "coordinates": [ { "allele": "A", "end": 9953, "referenceAllele": "C", "start": 9952 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.1:c.9938C>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Ser3313Ter", "hgvsWellDefined": "XP_011541131.1:p.Ser3314_Asn4005delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109758" }, { "coordinates": [ { "allele": "A", "end": 9950, "referenceAllele": "C", "start": 9949 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.1:c.9935C>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Ser3312Ter", "hgvsWellDefined": "XP_011541132.1:p.Ser3313_Asn4004delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109759" }, { "coordinates": [ { "allele": "A", "end": 9944, "referenceAllele": "C", "start": 9943 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.1:c.9929C>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Ser3310Ter", "hgvsWellDefined": "XP_011541133.1:p.Ser3311_Asn4002delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109760" }, { "coordinates": [ { "allele": "A", "end": 7760, "referenceAllele": "C", "start": 7759 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542832.1:c.7745C>A" ], "proteinEffect": { "hgvs": "XP_011541134.1:p.Ser2582Ter", "hgvsWellDefined": "XP_011541134.1:p.Ser2583_Asn3274delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109761" }, { "coordinates": [ { "allele": "A", "end": 7436, "referenceAllele": "C", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.1:c.7421C>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Ser2474Ter", "hgvsWellDefined": "XP_011541135.1:p.Ser2475_Asn3166delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109762" }, { "coordinates": [ { "allele": "A", "end": 7337, "referenceAllele": "C", "start": 7336 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.3:c.7322C>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Ser2441Ter", "hgvsWellDefined": "XP_006718902.2:p.Ser2442_Asn3133delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539720" }, { "coordinates": [ { "allele": "A", "end": 9953, "referenceAllele": "C", "start": 9952 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.2:c.9938C>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Ser3313Ter", "hgvsWellDefined": "XP_011541131.1:p.Ser3314_Asn4005delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554940" }, { "coordinates": [ { "allele": "A", "end": 9950, "referenceAllele": "C", "start": 9949 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.2:c.9935C>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Ser3312Ter", "hgvsWellDefined": "XP_011541132.1:p.Ser3313_Asn4004delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554941" }, { "coordinates": [ { "allele": "A", "end": 9944, "referenceAllele": "C", "start": 9943 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.2:c.9929C>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Ser3310Ter", "hgvsWellDefined": "XP_011541133.1:p.Ser3311_Asn4002delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554942" }, { "coordinates": [ { "allele": "A", "end": 7436, "referenceAllele": "C", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.2:c.7421C>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Ser2474Ter", "hgvsWellDefined": "XP_011541135.1:p.Ser2475_Asn3166delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554943" }, { "@id": "http://reg.genome.network/allele/PA1139687032", "coordinates": [ { "allele": "A", "end": 9860, "referenceAllele": "C", "start": 9859 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.2:c.9839C>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Ser3280Ter", "hgvsWellDefined": "NP_001184033.1:p.Ser3281_Asn3972delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.9839C>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.9839C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Ser3280Ter" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Ser3280Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829634462", "coordinates": [ { "allele": "A", "end": 9851, "referenceAllele": "C", "start": 9850 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.4:c.9830C>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Ser3277Ter", "hgvsWellDefined": "NP_005924.2:p.Ser3278_Asn3969delinsHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696566" } ], "type": "nucleotide" }