{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413699447", "communityStandardTitle": [ "NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=144221", "active": true, "id": "COSM144221" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3973887", "active": true, "id": "COSM3973887" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2952877[alleleid]", "alleleId": 2952877, "preferredName": "NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2802114", "RCV": [ "RCV003624849" ], "variationId": 2802114 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.76814313G>A?assembly=hg19", "id": "chrX:g.76814313G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77558842G>A?assembly=hg38", "id": "chrX:g.77558842G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147950429", "rs": 2147950429 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77558842, "referenceAllele": "G", "start": 77558841 } ], "hgvs": [ "NC_000023.11:g.77558842G>A", "CM000685.2:g.77558842G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 76814313, "referenceAllele": "G", "start": 76814312 } ], "hgvs": [ "NC_000023.10:g.76814313G>A", "CM000685.1:g.76814313G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 76700969, "referenceAllele": "G", "start": 76700968 } ], "hgvs": [ "NC_000023.9:g.76700969G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 232380, "referenceAllele": "C", "start": 232379 } ], "hgvs": [ "NG_008838.2:g.232380C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001233" }, { "coordinates": [ { "allele": "T", "end": 232428, "referenceAllele": "C", "start": 232427 } ], "hgvs": [ "NG_008838.3:g.232428C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6546, "referenceAllele": "C", "start": 6545 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.11:c.6331C>T" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg2111Ter", "hgvsWellDefined": "ENSP00000362441.4:p.Arg2111_Met2492delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.6331C>T" }, "RefSeq": { "hgvs": "NM_000489.6:c.6331C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg2111Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg2111Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000637175.1:n.67C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763667" }, { "coordinates": [ { "allele": "T", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000675732.1:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000502598.1:p.Arg477Ter", "hgvsWellDefined": "ENSP00000502598.1:p.Arg477_Met858delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775511" }, { "coordinates": [ { "allele": "T", "end": 6599, "referenceAllele": "C", "start": 6598 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.9:c.6331C>T" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg2111Ter", "hgvsWellDefined": "ENSP00000362441.4:p.Arg2111_Met2492delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269638" }, { "coordinates": [ { "allele": "T", "end": 6432, "referenceAllele": "C", "start": 6431 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000395603.7:c.6217C>T" ], "proteinEffect": { "hgvs": "ENSP00000378967.3:p.Arg2073Ter", "hgvsWellDefined": "ENSP00000378967.3:p.Arg2073_Met2454delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276784" }, { "coordinates": [ { "allele": "T", "end": 6669, "referenceAllele": "C", "start": 6668 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000480283.5:c.*5959C>T" ], "proteinEffect": { "hgvs": "ENSP00000480196.1:n.*5959C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS320467" }, { "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000623706.3:n.3401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406150" }, { "@id": "http://reg.genome.network/allele/PA2741818462", "coordinates": [ { "allele": "T", "end": 6599, "referenceAllele": "C", "start": 6598 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.4:c.6331C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2111Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2111_Met2492delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006543" }, { "@id": "http://reg.genome.network/allele/PA2830250149", "coordinates": [ { "allele": "T", "end": 6485, "referenceAllele": "C", "start": 6484 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.3:c.6217C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2073Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2073_Met2454delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040611" }, { "coordinates": [ { "allele": "T", "end": 6596, "referenceAllele": "C", "start": 6595 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.3:c.6328C>T" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg2110Ter", "hgvsWellDefined": "XP_005262210.2:p.Arg2110_Met2491delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063345" }, { "coordinates": [ { "allele": "T", "end": 6512, "referenceAllele": "C", "start": 6511 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.3:c.6244C>T" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg2082Ter", "hgvsWellDefined": "XP_005262211.2:p.Arg2082_Met2463delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063346" }, { "coordinates": [ { "allele": "T", "end": 6700, "referenceAllele": "C", "start": 6699 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.3:c.6214C>T" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg2072Ter", "hgvsWellDefined": "XP_005262212.2:p.Arg2072_Met2453delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063347" }, { "coordinates": [ { "allele": "T", "end": 6437, "referenceAllele": "C", "start": 6436 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.3:c.6166C>T" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg2056Ter", "hgvsWellDefined": "XP_005262213.2:p.Arg2056_Met2437delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063348" }, { "coordinates": [ { "allele": "T", "end": 6395, "referenceAllele": "C", "start": 6394 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.3:c.6127C>T" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg2043Ter", "hgvsWellDefined": "XP_005262214.2:p.Arg2043_Met2424delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063349" }, { "coordinates": [ { "allele": "T", "end": 6482, "referenceAllele": "C", "start": 6481 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.2:c.6214C>T" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg2072Ter", "hgvsWellDefined": "XP_006724729.1:p.Arg2072_Met2453delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075648" }, { "coordinates": [ { "allele": "T", "end": 6320, "referenceAllele": "C", "start": 6319 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.2:c.6052C>T" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg2018Ter", "hgvsWellDefined": "XP_006724730.1:p.Arg2018_Met2399delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075649" }, { "coordinates": [ { "allele": "T", "end": 6673, "referenceAllele": "C", "start": 6672 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_938400.1:n.6673C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133098" }, { "@id": "http://reg.genome.network/allele/PA2741818462", "coordinates": [ { "allele": "T", "end": 6546, "referenceAllele": "C", "start": 6545 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.5:c.6331C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2111Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2111_Met2492delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510800" }, { "coordinates": [ { "allele": "T", "end": 6543, "referenceAllele": "C", "start": 6542 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.5:c.6328C>T" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg2110Ter", "hgvsWellDefined": "XP_005262210.2:p.Arg2110_Met2491delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535419" }, { "coordinates": [ { "allele": "T", "end": 6469, "referenceAllele": "C", "start": 6468 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.5:c.6244C>T" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg2082Ter", "hgvsWellDefined": "XP_005262211.2:p.Arg2082_Met2463delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535420" }, { "coordinates": [ { "allele": "T", "end": 6700, "referenceAllele": "C", "start": 6699 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.4:c.6214C>T" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg2072Ter", "hgvsWellDefined": "XP_005262212.2:p.Arg2072_Met2453delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535421" }, { "coordinates": [ { "allele": "T", "end": 6452, "referenceAllele": "C", "start": 6451 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.4:c.6166C>T" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg2056Ter", "hgvsWellDefined": "XP_005262213.2:p.Arg2056_Met2437delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535422" }, { "coordinates": [ { "allele": "T", "end": 6352, "referenceAllele": "C", "start": 6351 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.5:c.6127C>T" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg2043Ter", "hgvsWellDefined": "XP_005262214.2:p.Arg2043_Met2424delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535423" }, { "coordinates": [ { "allele": "T", "end": 6439, "referenceAllele": "C", "start": 6438 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.4:c.6214C>T" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg2072Ter", "hgvsWellDefined": "XP_006724729.1:p.Arg2072_Met2453delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541034" }, { "coordinates": [ { "allele": "T", "end": 6338, "referenceAllele": "C", "start": 6337 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.3:c.6052C>T" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg2018Ter", "hgvsWellDefined": "XP_006724730.1:p.Arg2018_Met2399delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541035" }, { "coordinates": [ { "allele": "T", "end": 6466, "referenceAllele": "C", "start": 6465 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029601.2:c.6241C>T" ], "proteinEffect": { "hgvs": "XP_016885090.1:p.Arg2081Ter", "hgvsWellDefined": "XP_016885090.1:p.Arg2081_Met2462delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579117" }, { "coordinates": [ { "allele": "T", "end": 6680, "referenceAllele": "C", "start": 6679 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029602.1:c.6211C>T" ], "proteinEffect": { "hgvs": "XP_016885091.1:p.Arg2071Ter", "hgvsWellDefined": "XP_016885091.1:p.Arg2071_Met2452delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579118" }, { "coordinates": [ { "allele": "T", "end": 6449, "referenceAllele": "C", "start": 6448 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029603.1:c.6163C>T" ], "proteinEffect": { "hgvs": "XP_016885092.1:p.Arg2055Ter", "hgvsWellDefined": "XP_016885092.1:p.Arg2055_Met2436delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579119" }, { "coordinates": [ { "allele": "T", "end": 6355, "referenceAllele": "C", "start": 6354 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029604.2:c.6130C>T" ], "proteinEffect": { "hgvs": "XP_016885093.1:p.Arg2044Ter", "hgvsWellDefined": "XP_016885093.1:p.Arg2044_Met2425delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579120" }, { "coordinates": [ { "allele": "T", "end": 6613, "referenceAllele": "C", "start": 6612 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029605.1:c.6127C>T" ], "proteinEffect": { "hgvs": "XP_016885094.1:p.Arg2043Ter", "hgvsWellDefined": "XP_016885094.1:p.Arg2043_Met2424delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579121" }, { "coordinates": [ { "allele": "T", "end": 6573, "referenceAllele": "C", "start": 6572 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029606.2:c.6100C>T" ], "proteinEffect": { "hgvs": "XP_016885095.1:p.Arg2034Ter", "hgvsWellDefined": "XP_016885095.1:p.Arg2034_Met2415delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579122" }, { "coordinates": [ { "allele": "T", "end": 6566, "referenceAllele": "C", "start": 6565 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029607.2:c.6097C>T" ], "proteinEffect": { "hgvs": "XP_016885096.1:p.Arg2033Ter", "hgvsWellDefined": "XP_016885096.1:p.Arg2033_Met2414delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579123" }, { "coordinates": [ { "allele": "T", "end": 6257, "referenceAllele": "C", "start": 6256 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029608.2:c.6049C>T" ], "proteinEffect": { "hgvs": "XP_016885097.1:p.Arg2017Ter", "hgvsWellDefined": "XP_016885097.1:p.Arg2017_Met2398delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579124" }, { "coordinates": [ { "allele": "T", "end": 6499, "referenceAllele": "C", "start": 6498 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029609.1:c.6013C>T" ], "proteinEffect": { "hgvs": "XP_016885098.1:p.Arg2005Ter", "hgvsWellDefined": "XP_016885098.1:p.Arg2005_Met2386delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579125" }, { "coordinates": [ { "allele": "T", "end": 6496, "referenceAllele": "C", "start": 6495 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029610.1:c.6010C>T" ], "proteinEffect": { "hgvs": "XP_016885099.1:p.Arg2004Ter", "hgvsWellDefined": "XP_016885099.1:p.Arg2004_Met2385delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579126" }, { "coordinates": [ { "allele": "T", "end": 6251, "referenceAllele": "C", "start": 6250 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029611.1:c.5965C>T" ], "proteinEffect": { "hgvs": "XP_016885100.1:p.Arg1989Ter", "hgvsWellDefined": "XP_016885100.1:p.Arg1989_Met2370delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579127" }, { "coordinates": [ { "allele": "T", "end": 6630, "referenceAllele": "C", "start": 6629 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_001755700.2:n.6630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601333" }, { "@id": "http://reg.genome.network/allele/PA2830250149", "coordinates": [ { "allele": "T", "end": 6432, "referenceAllele": "C", "start": 6431 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.4:c.6217C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2073Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2073_Met2454delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699696" }, { "@id": "http://reg.genome.network/allele/PA2741818462", "coordinates": [ { "allele": "T", "end": 6546, "referenceAllele": "C", "start": 6545 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.6:c.6331C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2111Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2111_Met2492delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.6331C>T" }, "RefSeq": { "hgvs": "NM_000489.6:c.6331C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg2111Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg2111Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830250149", "coordinates": [ { "allele": "T", "end": 6432, "referenceAllele": "C", "start": 6431 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.5:c.6217C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2073Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2073_Met2454delinsLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729130" } ], "type": "nucleotide" }