{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413710856", "communityStandardTitle": [ "NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2916432[alleleid]", "alleleId": 2916432, "preferredName": "NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2753962", "RCV": [ "RCV003511802" ], "variationId": 2753962 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.76938037A>T?assembly=hg19", "id": "chrX:g.76938037A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77682545A>T?assembly=hg38", "id": "chrX:g.77682545A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148590668", "rs": 2148590668 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77682545, "referenceAllele": "A", "start": 77682544 } ], "hgvs": [ "NC_000023.11:g.77682545A>T", "CM000685.2:g.77682545A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76938037, "referenceAllele": "A", "start": 76938036 } ], "hgvs": [ "NC_000023.10:g.76938037A>T", "CM000685.1:g.76938037A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76824693, "referenceAllele": "A", "start": 76824692 } ], "hgvs": [ "NC_000023.9:g.76824693A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 108677, "referenceAllele": "T", "start": 108676 } ], "hgvs": [ "NG_008838.2:g.108677T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001233" }, { "coordinates": [ { "allele": "A", "end": 108725, "referenceAllele": "T", "start": 108724 } ], "hgvs": [ "NG_008838.3:g.108725T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "T", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.11:c.2711T>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Leu904Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS751211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.2711T>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.2711T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Leu904Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Leu904Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2979, "referenceAllele": "T", "start": 2978 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.9:c.2711T>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Leu904Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS269638" }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "T", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000395603.7:c.2597T>A" ], "proteinEffect": { "hgvs": "ENSP00000378967.3:p.Leu866Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS276784" }, { "coordinates": [ { "allele": "A", "end": 3049, "referenceAllele": "T", "start": 3048 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000480283.5:c.*2339T>A" ], "proteinEffect": { "hgvs": "ENSP00000480196.1:n.*2339T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS320467" }, { "coordinates": [ { "allele": "A", "end": 2831, "referenceAllele": "T", "start": 2830 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000624032.3:c.2624T>A" ], "proteinEffect": { "hgvs": "ENSP00000485253.1:p.Leu875Ter", "hgvsWellDefined": "ENSP00000485253.1:p.Leu875Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS406233" }, { "coordinates": [ { "allele": "A", "end": 2726, "referenceAllele": "T", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000624166.3:c.2507T>A" ], "proteinEffect": { "hgvs": "ENSP00000485103.1:p.Leu836Ter", "hgvsWellDefined": "ENSP00000485103.1:p.Leu836_Tyr1351del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406266" }, { "coordinates": [ { "allele": "A", "end": 2979, "referenceAllele": "T", "start": 2978 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.4:c.2711T>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Leu904Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006543" }, { "coordinates": [ { "allele": "A", "end": 2865, "referenceAllele": "T", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.3:c.2597T>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Leu866Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS040611" }, { "coordinates": [ { "allele": "A", "end": 2976, "referenceAllele": "T", "start": 2975 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.3:c.2708T>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Leu903Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS063345" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "T", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.3:c.2624T>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Leu875Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS063346" }, { "coordinates": [ { "allele": "A", "end": 3080, "referenceAllele": "T", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.3:c.2594T>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Leu865Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS063347" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "T", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.3:c.2546T>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Leu849Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS063348" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "T", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.3:c.2507T>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Leu836Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS063349" }, { "coordinates": [ { "allele": "A", "end": 2862, "referenceAllele": "T", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.2:c.2594T>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Leu865Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075648" }, { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "T", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.2:c.2432T>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Leu811Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075649" }, { "coordinates": [ { "allele": "A", "end": 2979, "referenceAllele": "T", "start": 2978 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.2:c.2711T>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Leu904Ter", "hgvsWellDefined": "XP_006724731.1:p.Leu904_Phe1871delinsArgAspArgLeuProLysLysGlnGlnAlaSerAlaSerThrAspGlyValAspLysLeuSerGlyLysGluGluSerPheThrSerLeuGluValArgLysValAlaGluThrLysGluLysSerLysHisLeuLysThrLysThrCysLysLysValGlnAspGlyLeuSerAspIleAlaGluLysPheLeuLysLysAspGlnSerAspGluThrSerGluAspAspLysLysGlnSerLysLysGlyThrGluGluLysLysLysProSerAspPheLysLysLysValIleLysMetGluGlnGlnTyrGluSerSerSerAspGlyThrGluLysLeuProGluArgGluGluIleCysHisPheProLysGlyIleLysGlnIleLysAsnGlyThrThrAspGlyGluLysLysSerLysLysIleArgAspLysThrSerLysLysLysAspGluLeuSerAspTyrAlaGluLysSerThrGlyLysGlyAspSerCysAspSerSerGluAspLysLysSerLysAsnGlyAlaTyrGlyArgGluLysLysArgCysLysLeuLeuGlyLysSerSerArgLysArgGlnAspCysSerSerSerAspThrGluLysTyrSerMetLysGluAspGlyCysAsnSerSerAspLysArgLeuLysArgIleGluLeuArgGluArgArgAsnLeuSerSerLysArgAsnThrLysGluIleGlnSerGlySerSerSerSerAspAlaGluGluSerSerGluAspAsnLysLysLysLysGlnArgThrSerSerLysLysLysAlaValIleValLysGluLysLysArgAsnSerLeuArgThrSerThrLysArgLysGlnAlaAspIleThrSerSerSerSerSerAspIleGluAspAspAspGlnAsnSerIleGlyGluGlySerSerAspGluGlnLysIleLysProValThrGluAsnLeuValLeuSerSerHisThrGlyPheCysGlnSerSerGlyAspGluAlaLeuSerLysSerValProValThrValAspAspAspAspAspAspAsnAspProGluAsnArgIleAlaLysLysMetLeuLeuGluGluIleLysAlaAsnLeuSerSerAspGluAspGlySerSerAspAspGluProGluGluGlyLysLysArgThrGlyLysGlnAsnGluGluAsnProGlyAspGluGluAlaLysAsnGlnValAsnSerGluSerAspSerAspSerGluGluSerLysLysProArgTyrArgHisArgLeuLeuArgHisLysLeuThrValSerAspGlyGluSerGlyGluGluLysLysThrLysProLysGluHisLysGluValLysGlyArgAsnArgArgLysValSerSerGluAspSerGluAspSerAspPheGlnGluSerGlyValSerGluGluValSerGluSerGluAspGluGlnArgProArgThrArgSerAlaLysLysAlaGluLeuGluGluAsnGlnArgSerTyrLysGlnLysLysLysArgArgArgIleLysValGlnGluAspSerSerSerGluAsnLysSerAsnSerGluGluGluGluGluGluLysGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluAspGluAsnAspAspSerLysSerProGlyLysGlyArgLysLysIleArgLysIleLeuLysAspAspLysLeuArgThrGluThrGlnAsnAlaLeuLysGluGluGluGluArgArgLysArgIleAlaGluArgGluArgGluArgGluLysLeuArgGluValIleGluIleGluAspAlaSerProThrLysCysProIleThrThrLysLeuValLeuAspGluAspGluGluThrLysGluProLeuValGlnValHisArgAsnMetValIleLysLeuLysProHisGlnValAspGlyValGlnPheMetTrpAspCysCysCysGluSerValLysLysThrLysLysSerProGlySerGlyCysIleLeuAlaHisCysMetGlyLeuGlyLysThrLeuGlnValValSerPheLeuHisThrValLeuLeuCysAspLysLeuAspPheSerThrAlaLeuValValCysProLeuAsnThrAlaLeuAsnTrpMetAsnGluPheGluLysTrpGlnGluGlyLeuLysAspAspGluLysLeuGluValSerGluLeuAlaThrValLysArgProGlnGluArgSerTyrMetLeuGlnArgTrpGlnGluAspGlyGlyValMetIleIleGlyTyrGluMetTyrArgAsnLeuAlaGlnGlyArgAsnValLysSerArgLysLeuLysGluIlePheAsnLysAlaLeuValAspProGlyProAspPheValValCysAspGluGlyHisIleLeuLysAsnGluAlaSerAlaValSerLysAlaMetAsnSerIleArgSerArgArgArgIleIleLeuThrGlyThrProLeuGlnAsnAsnLeuIleGluTyrHisCysMetValAsnPheIleLysGluAsnLeuLeuGlySerIleLysGluPheArgAsnArgPheIleAsnProIleGlnAsnGlyGlnCysAlaAspSerThrMetValAspValArgValMetLysLysArgAlaHisIleLeuTyrGluMetLeuAlaGlyCysValGlnArgLysAspTyrThrAlaLeuThrLysPheLeuProProLysHisGluTyrValLeuAlaValArgMetThrSerIleGlnCysLysLeuTyrGlnTyrTyrLeuAspHisLeuThrValLeuHisLeuAsnLysMetGlyMetLeuLysSerIleLysTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075650" }, { "coordinates": [ { "allele": "A", "end": 2979, "referenceAllele": "T", "start": 2978 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_938400.1:n.2979T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133098" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "T", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.5:c.2711T>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Leu904Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510800" }, { "coordinates": [ { "allele": "A", "end": 2923, "referenceAllele": "T", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.5:c.2708T>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Leu903Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535419" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "T", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.5:c.2624T>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Leu875Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535420" }, { "coordinates": [ { "allele": "A", "end": 3080, "referenceAllele": "T", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.4:c.2594T>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Leu865Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535421" }, { "coordinates": [ { "allele": "A", "end": 2832, "referenceAllele": "T", "start": 2831 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.4:c.2546T>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Leu849Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535422" }, { "coordinates": [ { "allele": "A", "end": 2732, "referenceAllele": "T", "start": 2731 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.5:c.2507T>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Leu836Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535423" }, { "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "T", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.4:c.2594T>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Leu865Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS541034" }, { "coordinates": [ { "allele": "A", "end": 2718, "referenceAllele": "T", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.3:c.2432T>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Leu811Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS541035" }, { "coordinates": [ { "allele": "A", "end": 2936, "referenceAllele": "T", "start": 2935 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.3:c.2711T>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Leu904Ter", "hgvsWellDefined": "XP_006724731.1:p.Leu904_Phe1871delinsArgAspArgLeuProLysLysGlnGlnAlaSerAlaSerThrAspGlyValAspLysLeuSerGlyLysGluGluSerPheThrSerLeuGluValArgLysValAlaGluThrLysGluLysSerLysHisLeuLysThrLysThrCysLysLysValGlnAspGlyLeuSerAspIleAlaGluLysPheLeuLysLysAspGlnSerAspGluThrSerGluAspAspLysLysGlnSerLysLysGlyThrGluGluLysLysLysProSerAspPheLysLysLysValIleLysMetGluGlnGlnTyrGluSerSerSerAspGlyThrGluLysLeuProGluArgGluGluIleCysHisPheProLysGlyIleLysGlnIleLysAsnGlyThrThrAspGlyGluLysLysSerLysLysIleArgAspLysThrSerLysLysLysAspGluLeuSerAspTyrAlaGluLysSerThrGlyLysGlyAspSerCysAspSerSerGluAspLysLysSerLysAsnGlyAlaTyrGlyArgGluLysLysArgCysLysLeuLeuGlyLysSerSerArgLysArgGlnAspCysSerSerSerAspThrGluLysTyrSerMetLysGluAspGlyCysAsnSerSerAspLysArgLeuLysArgIleGluLeuArgGluArgArgAsnLeuSerSerLysArgAsnThrLysGluIleGlnSerGlySerSerSerSerAspAlaGluGluSerSerGluAspAsnLysLysLysLysGlnArgThrSerSerLysLysLysAlaValIleValLysGluLysLysArgAsnSerLeuArgThrSerThrLysArgLysGlnAlaAspIleThrSerSerSerSerSerAspIleGluAspAspAspGlnAsnSerIleGlyGluGlySerSerAspGluGlnLysIleLysProValThrGluAsnLeuValLeuSerSerHisThrGlyPheCysGlnSerSerGlyAspGluAlaLeuSerLysSerValProValThrValAspAspAspAspAspAspAsnAspProGluAsnArgIleAlaLysLysMetLeuLeuGluGluIleLysAlaAsnLeuSerSerAspGluAspGlySerSerAspAspGluProGluGluGlyLysLysArgThrGlyLysGlnAsnGluGluAsnProGlyAspGluGluAlaLysAsnGlnValAsnSerGluSerAspSerAspSerGluGluSerLysLysProArgTyrArgHisArgLeuLeuArgHisLysLeuThrValSerAspGlyGluSerGlyGluGluLysLysThrLysProLysGluHisLysGluValLysGlyArgAsnArgArgLysValSerSerGluAspSerGluAspSerAspPheGlnGluSerGlyValSerGluGluValSerGluSerGluAspGluGlnArgProArgThrArgSerAlaLysLysAlaGluLeuGluGluAsnGlnArgSerTyrLysGlnLysLysLysArgArgArgIleLysValGlnGluAspSerSerSerGluAsnLysSerAsnSerGluGluGluGluGluGluLysGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluAspGluAsnAspAspSerLysSerProGlyLysGlyArgLysLysIleArgLysIleLeuLysAspAspLysLeuArgThrGluThrGlnAsnAlaLeuLysGluGluGluGluArgArgLysArgIleAlaGluArgGluArgGluArgGluLysLeuArgGluValIleGluIleGluAspAlaSerProThrLysCysProIleThrThrLysLeuValLeuAspGluAspGluGluThrLysGluProLeuValGlnValHisArgAsnMetValIleLysLeuLysProHisGlnValAspGlyValGlnPheMetTrpAspCysCysCysGluSerValLysLysThrLysLysSerProGlySerGlyCysIleLeuAlaHisCysMetGlyLeuGlyLysThrLeuGlnValValSerPheLeuHisThrValLeuLeuCysAspLysLeuAspPheSerThrAlaLeuValValCysProLeuAsnThrAlaLeuAsnTrpMetAsnGluPheGluLysTrpGlnGluGlyLeuLysAspAspGluLysLeuGluValSerGluLeuAlaThrValLysArgProGlnGluArgSerTyrMetLeuGlnArgTrpGlnGluAspGlyGlyValMetIleIleGlyTyrGluMetTyrArgAsnLeuAlaGlnGlyArgAsnValLysSerArgLysLeuLysGluIlePheAsnLysAlaLeuValAspProGlyProAspPheValValCysAspGluGlyHisIleLeuLysAsnGluAlaSerAlaValSerLysAlaMetAsnSerIleArgSerArgArgArgIleIleLeuThrGlyThrProLeuGlnAsnAsnLeuIleGluTyrHisCysMetValAsnPheIleLysGluAsnLeuLeuGlySerIleLysGluPheArgAsnArgPheIleAsnProIleGlnAsnGlyGlnCysAlaAspSerThrMetValAspValArgValMetLysLysArgAlaHisIleLeuTyrGluMetLeuAlaGlyCysValGlnArgLysAspTyrThrAlaLeuThrLysPheLeuProProLysHisGluTyrValLeuAlaValArgMetThrSerIleGlnCysLysLeuTyrGlnTyrTyrLeuAspHisLeuThrValLeuHisLeuAsnLysMetGlyMetLeuLysSerIleLysTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541036" }, { "coordinates": [ { "allele": "A", "end": 2846, "referenceAllele": "T", "start": 2845 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029601.2:c.2621T>A" ], "proteinEffect": { "hgvs": "XP_016885090.1:p.Leu874Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579117" }, { "coordinates": [ { "allele": "A", "end": 3060, "referenceAllele": "T", "start": 3059 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029602.1:c.2591T>A" ], "proteinEffect": { "hgvs": "XP_016885091.1:p.Leu864Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579118" }, { "coordinates": [ { "allele": "A", "end": 2829, "referenceAllele": "T", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029603.1:c.2543T>A" ], "proteinEffect": { "hgvs": "XP_016885092.1:p.Leu848Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579119" }, { "coordinates": [ { "allele": "A", "end": 2735, "referenceAllele": "T", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029604.2:c.2510T>A" ], "proteinEffect": { "hgvs": "XP_016885093.1:p.Leu837Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579120" }, { "coordinates": [ { "allele": "A", "end": 2993, "referenceAllele": "T", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029605.1:c.2507T>A" ], "proteinEffect": { "hgvs": "XP_016885094.1:p.Leu836Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579121" }, { "coordinates": [ { "allele": "A", "end": 2953, "referenceAllele": "T", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029606.2:c.2480T>A" ], "proteinEffect": { "hgvs": "XP_016885095.1:p.Leu827Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579122" }, { "coordinates": [ { "allele": "A", "end": 2946, "referenceAllele": "T", "start": 2945 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029607.2:c.2477T>A" ], "proteinEffect": { "hgvs": "XP_016885096.1:p.Leu826Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579123" }, { "coordinates": [ { "allele": "A", "end": 2637, "referenceAllele": "T", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029608.2:c.2429T>A" ], "proteinEffect": { "hgvs": "XP_016885097.1:p.Leu810Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579124" }, { "coordinates": [ { "allele": "A", "end": 2879, "referenceAllele": "T", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029609.1:c.2393T>A" ], "proteinEffect": { "hgvs": "XP_016885098.1:p.Leu798Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579125" }, { "coordinates": [ { "allele": "A", "end": 2876, "referenceAllele": "T", "start": 2875 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029610.1:c.2390T>A" ], "proteinEffect": { "hgvs": "XP_016885099.1:p.Leu797Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579126" }, { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "T", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029611.1:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_016885100.1:p.Leu782Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579127" }, { "coordinates": [ { "allele": "A", "end": 2936, "referenceAllele": "T", "start": 2935 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_001755700.2:n.2936T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601333" }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "T", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.4:c.2597T>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Leu866Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699696" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "T", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.6:c.2711T>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Leu904Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS710838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.2711T>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.2711T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Leu904Ter" }, "RefSeq": { "hgvs": "NP_000480.3:p.Leu904Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "T", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.5:c.2597T>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Leu866Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729130" } ], "type": "nucleotide" }