{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382827175", "communityStandardTitle": [ "NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3081723[alleleid]", "alleleId": 3081723, "preferredName": "NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2921263", "RCV": [ "RCV003649156" ], "variationId": 2921263 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118377352C>A?assembly=hg19", "id": "chr11:g.118377352C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118506637C>A?assembly=hg38", "id": "chr11:g.118506637C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2497033999", "rs": 2497033999 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 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"http://reg.genome.network/refseq/RS830047" }, { "coordinates": [ { "allele": "A", "end": 4784, "referenceAllele": "C", "start": 4783 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000686370.1:c.4784C>A" ], "proteinEffect": { "hgvs": "ENSP00000509179.1:p.Ser1595Ter", "hgvsWellDefined": "ENSP00000509179.1:p.Ser1595Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830534" }, { "coordinates": [ { "allele": "A", "end": 5042, "referenceAllele": "C", "start": 5041 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000689424.1:c.5042C>A" ], "proteinEffect": { "hgvs": "ENSP00000509852.1:p.Ser1681Ter", "hgvsWellDefined": "ENSP00000509852.1:p.Ser1681_Gly1684del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832161" }, { "coordinates": [ { "allele": "A", "end": 10825, "referenceAllele": "C", "start": 10824 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000691053.1:c.10817C>A" ], "proteinEffect": { "hgvs": "ENSP00000509168.1:p.Ser3606Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833016" }, { "coordinates": [ { "allele": "A", "end": 10759, "referenceAllele": "C", "start": 10758 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.10:c.10736C>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Ser3579Ter", "hgvsWellDefined": "ENSP00000374157.5:p.Ser3579_Asn3969delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752814" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534085.2:n.1024C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759379" }, { "coordinates": [ { "allele": "A", "end": 10766, "referenceAllele": "C", "start": 10765 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.8:c.10745C>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.2:p.Ser3582Ter", "hgvsWellDefined": "ENSP00000436786.2:p.Ser3582_Asn3972delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759393", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.10745C>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.10745C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Ser3582Ter" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Ser3582Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000647944.1:c.374C>A" ], "proteinEffect": { "hgvs": "ENSP00000498134.1:p.Ser125Ter", "hgvsWellDefined": "ENSP00000498134.1:p.Ser125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769704" }, { "coordinates": [ { "allele": "A", "end": 10622, "referenceAllele": "C", "start": 10621 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS770690" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "C", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000649878.1:c.92C>A" ], "proteinEffect": { "hgvs": "ENSP00000497891.1:p.Ser31Ter", "hgvsWellDefined": "ENSP00000497891.1:p.Ser31_Lys69delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlySerGlyAspProLysSerSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770816" }, { "coordinates": [ { "allele": "A", "end": 10736, "referenceAllele": "C", "start": 10735 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.9:c.10736C>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Ser3579Ter", "hgvsWellDefined": "ENSP00000374157.5:p.Ser3579_Asn3969delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274225" }, { "coordinates": [ { "allele": "A", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534085.1:n.77C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358752" }, { "coordinates": [ { "allele": "A", "end": 10768, "referenceAllele": "C", "start": 10767 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.5:c.10745C>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.1:p.Ser3582Ter", "hgvsWellDefined": "ENSP00000436786.1:p.Ser3582_Asn3972delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS358979" }, { "@id": "http://reg.genome.network/allele/PA2826219448", "coordinates": [ { "allele": "A", "end": 10768, "referenceAllele": "C", "start": 10767 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.1:c.10745C>A", "LRG_613t1:c.10745C>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Ser3582Ter", "hgvsWellDefined": "NP_001184033.1:p.Ser3582_Asn3972delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016695" }, { "@id": "http://reg.genome.network/allele/PA2829634781", "coordinates": [ { "allele": "A", "end": 10759, "referenceAllele": "C", "start": 10758 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.3:c.10736C>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Ser3579Ter", "hgvsWellDefined": "NP_005924.2:p.Ser3579_Asn3969delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030989" }, { "coordinates": [ { "allele": "A", "end": 8243, "referenceAllele": "C", "start": 8242 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.2:c.8228C>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Ser2743Ter", "hgvsWellDefined": "XP_006718902.2:p.Ser2743_Asn3133delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072816" }, { "coordinates": [ { "allele": "A", "end": 10859, "referenceAllele": "C", "start": 10858 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.1:c.10844C>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Ser3615Ter", "hgvsWellDefined": "XP_011541131.1:p.Ser3615_Asn4005delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109758" }, { "coordinates": [ { "allele": "A", "end": 10856, "referenceAllele": "C", "start": 10855 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.1:c.10841C>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Ser3614Ter", "hgvsWellDefined": "XP_011541132.1:p.Ser3614_Asn4004delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109759" }, { "coordinates": [ { "allele": "A", "end": 10850, "referenceAllele": "C", "start": 10849 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.1:c.10835C>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Ser3612Ter", "hgvsWellDefined": "XP_011541133.1:p.Ser3612_Asn4002delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109760" }, { "coordinates": [ { "allele": "A", "end": 8666, "referenceAllele": "C", "start": 8665 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542832.1:c.8651C>A" ], "proteinEffect": { "hgvs": "XP_011541134.1:p.Ser2884Ter", "hgvsWellDefined": "XP_011541134.1:p.Ser2884_Asn3274delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109761" }, { "coordinates": [ { "allele": "A", "end": 8342, "referenceAllele": "C", "start": 8341 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.1:c.8327C>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Ser2776Ter", "hgvsWellDefined": "XP_011541135.1:p.Ser2776_Asn3166delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109762" }, { "coordinates": [ { "allele": "A", "end": 8243, "referenceAllele": "C", "start": 8242 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.3:c.8228C>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Ser2743Ter", "hgvsWellDefined": "XP_006718902.2:p.Ser2743_Asn3133delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539720" }, { "coordinates": [ { "allele": "A", "end": 10859, "referenceAllele": "C", "start": 10858 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.2:c.10844C>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Ser3615Ter", "hgvsWellDefined": "XP_011541131.1:p.Ser3615_Asn4005delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554940" }, { "coordinates": [ { "allele": "A", "end": 10856, "referenceAllele": "C", "start": 10855 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.2:c.10841C>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Ser3614Ter", "hgvsWellDefined": "XP_011541132.1:p.Ser3614_Asn4004delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554941" }, { "coordinates": [ { "allele": "A", "end": 10850, "referenceAllele": "C", "start": 10849 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.2:c.10835C>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Ser3612Ter", "hgvsWellDefined": "XP_011541133.1:p.Ser3612_Asn4002delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554942" }, { "coordinates": [ { "allele": "A", "end": 8342, "referenceAllele": "C", "start": 8341 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.2:c.8327C>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Ser2776Ter", "hgvsWellDefined": "XP_011541135.1:p.Ser2776_Asn3166delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554943" }, { "@id": "http://reg.genome.network/allele/PA2826219448", "coordinates": [ { "allele": "A", "end": 10766, "referenceAllele": "C", "start": 10765 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.2:c.10745C>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Ser3582Ter", "hgvsWellDefined": "NP_001184033.1:p.Ser3582_Asn3972delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.10745C>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.10745C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Ser3582Ter" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Ser3582Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829634781", "coordinates": [ { "allele": "A", "end": 10757, "referenceAllele": "C", "start": 10756 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.4:c.10736C>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Ser3579Ter", "hgvsWellDefined": "NP_005924.2:p.Ser3579_Asn3969delinsGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlyGlnValAlaValLeuProGluValGlnValThrGlnAsnProAlaAsnGluGlnGluSerAlaGluProLysThrValGluGluGluGluSerAsnPheSerSerProLeuMetLeuTrpLeuGlnGlnGluGlnLysArgLysGluSerIleThrGluLysLysProLysLysGlyLeuValPheGluIleSerSerAspAspGlyPheGlnIleCysAlaGluSerIleGluAspAlaTrpLysSerLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696566" } ], "type": "nucleotide" }