{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413701251", "communityStandardTitle": [ "NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=85818", "active": true, "id": "COSM85818" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1125404", "active": true, "id": "COSM1125404" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325806[alleleid]", "alleleId": 1325806, "preferredName": "NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334885", "RCV": [ "RCV001815150", "RCV003624466" ], "variationId": 1334885 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.76829806G>A?assembly=hg19", "id": "chrX:g.76829806G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77574341G>A?assembly=hg38", "id": "chrX:g.77574341G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148020083", "rs": 2148020083 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77574341, "referenceAllele": "G", "start": 77574340 } ], "hgvs": [ "NC_000023.11:g.77574341G>A", "CM000685.2:g.77574341G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 76829806, "referenceAllele": "G", "start": 76829805 } ], "hgvs": [ "NC_000023.10:g.76829806G>A", "CM000685.1:g.76829806G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 76716462, "referenceAllele": "G", "start": 76716461 } ], "hgvs": [ "NC_000023.9:g.76716462G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 216881, "referenceAllele": "C", "start": 216880 } ], "hgvs": [ "NG_008838.2:g.216881C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001233" }, { "coordinates": [ { "allele": "T", "end": 216929, "referenceAllele": "C", "start": 216928 } ], "hgvs": [ "NG_008838.3:g.216929C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6450, "referenceAllele": "C", "start": 6449 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.11:c.6235C>T" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg2079Ter", "hgvsWellDefined": "ENSP00000362441.4:p.Arg2079_Met2492delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.6235C>T" }, "RefSeq": { "hgvs": "NM_000489.6:c.6235C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg2079Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg2079Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000636152.1:n.70C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762911" }, { "coordinates": [ { "allele": "T", "end": 1965, "referenceAllele": "C", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000675732.1:c.1333C>T" ], "proteinEffect": { "hgvs": "ENSP00000502598.1:p.Arg445Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775511" }, { "coordinates": [ { "allele": "T", "end": 6503, "referenceAllele": "C", "start": 6502 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.9:c.6235C>T" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg2079Ter", "hgvsWellDefined": "ENSP00000362441.4:p.Arg2079_Met2492delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269638" }, { "coordinates": [ { "allele": "T", "end": 6336, "referenceAllele": "C", "start": 6335 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000395603.7:c.6121C>T" ], "proteinEffect": { "hgvs": "ENSP00000378967.3:p.Arg2041Ter", "hgvsWellDefined": "ENSP00000378967.3:p.Arg2041_Met2454delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276784" }, { "coordinates": [ { "allele": "T", "end": 6573, "referenceAllele": "C", "start": 6572 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000480283.5:c.*5863C>T" ], "proteinEffect": { "hgvs": "ENSP00000480196.1:n.*5863C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS320467" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000623316.1:c.719C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406046" }, { "coordinates": [ { "allele": "T", "end": 3305, "referenceAllele": "C", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000623706.3:n.3305C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406150" }, { "@id": "http://reg.genome.network/allele/PA2573062887", "coordinates": [ { "allele": "T", "end": 6503, "referenceAllele": "C", "start": 6502 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.4:c.6235C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2079Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2079_Met2492delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006543" }, { "@id": "http://reg.genome.network/allele/PA2830250133", "coordinates": [ { "allele": "T", "end": 6389, "referenceAllele": "C", "start": 6388 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.3:c.6121C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2041Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2041_Met2454delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040611" }, { "coordinates": [ { "allele": "T", "end": 6500, "referenceAllele": "C", "start": 6499 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.3:c.6232C>T" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg2078Ter", "hgvsWellDefined": "XP_005262210.2:p.Arg2078_Met2491delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063345" }, { "coordinates": [ { "allele": "T", "end": 6416, "referenceAllele": "C", "start": 6415 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.3:c.6148C>T" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg2050Ter", "hgvsWellDefined": "XP_005262211.2:p.Arg2050_Met2463delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063346" }, { "coordinates": [ { "allele": "T", "end": 6604, "referenceAllele": "C", "start": 6603 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.3:c.6118C>T" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg2040Ter", "hgvsWellDefined": "XP_005262212.2:p.Arg2040_Met2453delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063347" }, { "coordinates": [ { "allele": "T", "end": 6341, "referenceAllele": "C", "start": 6340 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.3:c.6070C>T" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg2024Ter", "hgvsWellDefined": "XP_005262213.2:p.Arg2024_Met2437delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063348" }, { "coordinates": [ { "allele": "T", "end": 6299, "referenceAllele": "C", "start": 6298 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.3:c.6031C>T" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg2011Ter", "hgvsWellDefined": "XP_005262214.2:p.Arg2011_Met2424delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063349" }, { "coordinates": [ { "allele": "T", "end": 6386, "referenceAllele": "C", "start": 6385 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.2:c.6118C>T" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg2040Ter", "hgvsWellDefined": "XP_006724729.1:p.Arg2040_Met2453delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075648" }, { "coordinates": [ { "allele": "T", "end": 6224, "referenceAllele": "C", "start": 6223 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.2:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg1986Ter", "hgvsWellDefined": "XP_006724730.1:p.Arg1986_Met2399delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075649" }, { "coordinates": [ { "allele": "T", "end": 6577, "referenceAllele": "C", "start": 6576 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_938400.1:n.6577C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133098" }, { "@id": "http://reg.genome.network/allele/PA2573062887", "coordinates": [ { "allele": "T", "end": 6450, "referenceAllele": "C", "start": 6449 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.5:c.6235C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2079Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2079_Met2492delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510800" }, { "coordinates": [ { "allele": "T", "end": 6447, "referenceAllele": "C", "start": 6446 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.5:c.6232C>T" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg2078Ter", "hgvsWellDefined": "XP_005262210.2:p.Arg2078_Met2491delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535419" }, { "coordinates": [ { "allele": "T", "end": 6373, "referenceAllele": "C", "start": 6372 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.5:c.6148C>T" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg2050Ter", "hgvsWellDefined": "XP_005262211.2:p.Arg2050_Met2463delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535420" }, { "coordinates": [ { "allele": "T", "end": 6604, "referenceAllele": "C", "start": 6603 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.4:c.6118C>T" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg2040Ter", "hgvsWellDefined": "XP_005262212.2:p.Arg2040_Met2453delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535421" }, { "coordinates": [ { "allele": "T", "end": 6356, "referenceAllele": "C", "start": 6355 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.4:c.6070C>T" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg2024Ter", "hgvsWellDefined": "XP_005262213.2:p.Arg2024_Met2437delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535422" }, { "coordinates": [ { "allele": "T", "end": 6256, "referenceAllele": "C", "start": 6255 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.5:c.6031C>T" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg2011Ter", "hgvsWellDefined": "XP_005262214.2:p.Arg2011_Met2424delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535423" }, { "coordinates": [ { "allele": "T", "end": 6343, "referenceAllele": "C", "start": 6342 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.4:c.6118C>T" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg2040Ter", "hgvsWellDefined": "XP_006724729.1:p.Arg2040_Met2453delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541034" }, { "coordinates": [ { "allele": "T", "end": 6242, "referenceAllele": "C", "start": 6241 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.3:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg1986Ter", "hgvsWellDefined": "XP_006724730.1:p.Arg1986_Met2399delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541035" }, { "coordinates": [ { "allele": "T", "end": 6370, "referenceAllele": "C", "start": 6369 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029601.2:c.6145C>T" ], "proteinEffect": { "hgvs": "XP_016885090.1:p.Arg2049Ter", "hgvsWellDefined": "XP_016885090.1:p.Arg2049_Met2462delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579117" }, { "coordinates": [ { "allele": "T", "end": 6584, "referenceAllele": "C", "start": 6583 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029602.1:c.6115C>T" ], "proteinEffect": { "hgvs": "XP_016885091.1:p.Arg2039Ter", "hgvsWellDefined": "XP_016885091.1:p.Arg2039_Met2452delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579118" }, { "coordinates": [ { "allele": "T", "end": 6353, "referenceAllele": "C", "start": 6352 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029603.1:c.6067C>T" ], "proteinEffect": { "hgvs": "XP_016885092.1:p.Arg2023Ter", "hgvsWellDefined": "XP_016885092.1:p.Arg2023_Met2436delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579119" }, { "coordinates": [ { "allele": "T", "end": 6259, "referenceAllele": "C", "start": 6258 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029604.2:c.6034C>T" ], "proteinEffect": { "hgvs": "XP_016885093.1:p.Arg2012Ter", "hgvsWellDefined": "XP_016885093.1:p.Arg2012_Met2425delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579120" }, { "coordinates": [ { "allele": "T", "end": 6517, "referenceAllele": "C", "start": 6516 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029605.1:c.6031C>T" ], "proteinEffect": { "hgvs": "XP_016885094.1:p.Arg2011Ter", "hgvsWellDefined": "XP_016885094.1:p.Arg2011_Met2424delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579121" }, { "coordinates": [ { "allele": "T", "end": 6477, "referenceAllele": "C", "start": 6476 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029606.2:c.6004C>T" ], "proteinEffect": { "hgvs": "XP_016885095.1:p.Arg2002Ter", "hgvsWellDefined": "XP_016885095.1:p.Arg2002_Met2415delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579122" }, { "coordinates": [ { "allele": "T", "end": 6470, "referenceAllele": "C", "start": 6469 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029607.2:c.6001C>T" ], "proteinEffect": { "hgvs": "XP_016885096.1:p.Arg2001Ter", "hgvsWellDefined": "XP_016885096.1:p.Arg2001_Met2414delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579123" }, { "coordinates": [ { "allele": "T", "end": 6161, "referenceAllele": "C", "start": 6160 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029608.2:c.5953C>T" ], "proteinEffect": { "hgvs": "XP_016885097.1:p.Arg1985Ter", "hgvsWellDefined": "XP_016885097.1:p.Arg1985_Met2398delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579124" }, { "coordinates": [ { "allele": "T", "end": 6403, "referenceAllele": "C", "start": 6402 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029609.1:c.5917C>T" ], "proteinEffect": { "hgvs": "XP_016885098.1:p.Arg1973Ter", "hgvsWellDefined": "XP_016885098.1:p.Arg1973_Met2386delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579125" }, { "coordinates": [ { "allele": "T", "end": 6400, "referenceAllele": "C", "start": 6399 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029610.1:c.5914C>T" ], "proteinEffect": { "hgvs": "XP_016885099.1:p.Arg1972Ter", "hgvsWellDefined": "XP_016885099.1:p.Arg1972_Met2385delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579126" }, { "coordinates": [ { "allele": "T", "end": 6155, "referenceAllele": "C", "start": 6154 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029611.1:c.5869C>T" ], "proteinEffect": { "hgvs": "XP_016885100.1:p.Arg1957Ter", "hgvsWellDefined": "XP_016885100.1:p.Arg1957_Met2370delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579127" }, { "coordinates": [ { "allele": "T", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_001755700.2:n.6534C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601333" }, { "@id": "http://reg.genome.network/allele/PA2830250133", "coordinates": [ { "allele": "T", "end": 6336, "referenceAllele": "C", "start": 6335 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.4:c.6121C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2041Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2041_Met2454delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699696" }, { "@id": "http://reg.genome.network/allele/PA2573062887", "coordinates": [ { "allele": "T", "end": 6450, "referenceAllele": "C", "start": 6449 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.6:c.6235C>T" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg2079Ter", "hgvsWellDefined": "NP_000480.3:p.Arg2079_Met2492delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.6235C>T" }, "RefSeq": { "hgvs": "NM_000489.6:c.6235C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg2079Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg2079Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830250133", "coordinates": [ { "allele": "T", "end": 6336, "referenceAllele": "C", "start": 6335 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.5:c.6121C>T" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg2041Ter", "hgvsWellDefined": "NP_612114.2:p.Arg2041_Met2454delinsAsnIleAspTyrTyrArgLeuAspGlySerThrThrAlaGlnSerArgLysLysTrpAlaGluGluPheAsnAspGluThrAsnValArgGlyArgLeuPheIleIleSerThrLysAlaGlySerLeuGlyIleAsnLeuValAlaAlaAsnArgValIleIlePheAspAlaSerTrpAsnProSerTyrAspIleGlnSerIlePheArgValTyrArgPheGlyGlnThrLysProValTyrValTyrArgPheLeuAlaGlnGlyThrMetGluAspLysIleTyrAspArgGlnValThrLysGlnSerLeuSerPheArgValValAspGlnGlnGlnValGluArgHisPheThrMetAsnGluLeuThrGluLeuTyrThrPheGluProAspLeuLeuAspAspProAsnSerGluLysLysLysLysArgAspThrProMetLeuProLysAspThrIleLeuAlaGluLeuLeuGlnIleHisLysGluHisIleValGlyTyrHisGluHisAspSerLeuLeuAspHisLysGluGluGluGluLeuThrGluGluGluArgLysAlaAlaTrpAlaGluTyrGluAlaGluLysLysGlyLeuThrMetArgPheAsnIleProThrGlyThrAsnLeuProProValSerPheAsnSerGlnThrProTyrIleProPheAsnLeuGlyAlaLeuSerAlaMetSerAsnGlnGlnLeuGluAspLeuIleAsnGlnGlyArgGluLysValValGluAlaThrAsnSerValThrAlaValArgIleGlnProLeuGluAspIleIleSerAlaValTrpLysGluAsnMetAsnLeuSerGluAlaGlnValGlnAlaLeuAlaLeuSerArgGlnAlaSerGlnGluLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729130" } ], "type": "nucleotide" }