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"referenceSequence": "http://reg.genome.network/refseq/RS706193" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4745, "referenceAllele": "G", "start": 4744 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.11:c.4745G>A" ], "proteinEffect": { "hgvs": "ENSP00000055163.8:p.Trp1582Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "A", "end": 4496, "referenceAllele": "G", "start": 4495 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.4496G>A" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Trp1499Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262224" }, { "coordinates": [ { "allele": "A", "end": 4497, "referenceAllele": "G", "start": 4496 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.9:c.4496G>A" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Trp1499Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "@id": "http://reg.genome.network/allele/PA2829951140", "coordinates": [ { "allele": "A", "end": 4535, "referenceAllele": "G", "start": 4534 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.4535G>A" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Trp1512Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "A", "end": 4693, "referenceAllele": "G", "start": 4692 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.4655G>A" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Trp1552Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "A", "end": 3830, "referenceAllele": "G", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.3734G>A" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Trp1245Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "A", "end": 3619, "referenceAllele": "G", "start": 3618 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.3554G>A" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Trp1185Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "A", "end": 3344, "referenceAllele": "G", "start": 3343 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.3314G>A" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Trp1105Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "A", "end": 2948, "referenceAllele": "G", "start": 2947 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.2933G>A" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Trp978Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "G", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.1796G>A" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Trp599Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "@id": "http://reg.genome.network/allele/PA891866241", "coordinates": [ { "allele": "A", "end": 4730, "referenceAllele": "G", "start": 4729 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.4655G>A" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Trp1552Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA916044080", "coordinates": [ { "allele": "A", "end": 2799, "referenceAllele": "G", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.2405G>A" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Trp802Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523510" }, { "coordinates": [ { "allele": "A", "end": 4941, "referenceAllele": "G", "start": 4940 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.2:c.4865G>A" ], "proteinEffect": { "hgvs": "XP_011534286.2:p.Trp1622Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552267" }, { "coordinates": [ { "allele": "A", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.3:c.1796G>A" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Trp599Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "A", "end": 4851, "referenceAllele": "G", "start": 4850 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.4851G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA916044080", "coordinates": [ { "allele": "A", "end": 2794, "referenceAllele": "G", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.2405G>A" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Trp802Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828448774", "coordinates": [ { "allele": "A", "end": 5704, "referenceAllele": "G", "start": 5703 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.4784G>A" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Trp1595Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553727", "coordinates": [ { "allele": "A", "end": 5087, "referenceAllele": "G", "start": 5086 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.4784G>A" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Trp1595Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2828555522", "coordinates": [ { "allele": "A", "end": 5207, "referenceAllele": "G", "start": 5206 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.4904G>A" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Trp1635Ter", "hgvsWellDefined": "NP_001361757.1:p.Trp1635_Leu2372delinsProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4904G>A" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4904G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Trp1635Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Trp1635Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829869119", "coordinates": [ { "allele": "A", "end": 5048, "referenceAllele": "G", "start": 5047 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.4745G>A" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Trp1582Ter", "hgvsWellDefined": "NP_059989.3:p.Trp1582_Leu2319delinsProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }