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}, "referenceSequence": "http://reg.genome.network/refseq/RS748444", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000350721.9:c.6531G>A" }, "RefSeq": { "hgvs": "NM_001184.4:c.6531G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343741.4:p.Trp2177Ter" }, "RefSeq": { "hgvs": "NP_001175.2:p.Trp2177Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000513291.2:n.1715G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758318" }, { "coordinates": [ { "allele": "A", "end": 1374, "referenceAllele": "G", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000654170.1:n.1374G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772459" }, { "coordinates": [ { "allele": "A", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS772723" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000665483.1:n.386G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772902" }, { "coordinates": [ { "allele": "A", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000666447.1:n.366G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772943" }, { "coordinates": [ { "allele": "A", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000666943.1:n.1995G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772960" }, { "coordinates": [ { "allele": "A", "end": 6653, "referenceAllele": "G", "start": 6652 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000350721.8:c.6531G>A" ], "proteinEffect": { "hgvs": "ENSP00000343741.4:p.Trp2177Ter", "hgvsWellDefined": "ENSP00000343741.4:p.Trp2177_Met2644delinsMetMetThrAlaValSerLysSerSerTyrProMetArgValAsnArgCysLysGluIleLeuAsnLysAlaIleHisMetLysLysSerLeuGluLysPheValGlyAspAlaThrArgLeuThrAspLysLeuLeuGluLeuCysAsnLysProValAspGlySerSerSerThrLeuSerMetSerThrHisPheLysMetLeuLysLysLeuValGluGluAlaThrPheSerGluIleLeuIleProLeuGlnSerValMetIleProThrLeuProSerIleLeuGlyThrHisAlaAsnHisAlaSerHisGluProPheProGlyHisTrpAlaTyrIleAlaGlyPheAspAspMetValGluIleLeuAlaSerLeuGlnLysProLysLysIleSerLeuLysGlySerAspGlyLysPheTyrIleMetMetCysLysProLysAspAspLeuArgLysAspCysArgLeuMetGluPheAsnSerLeuIleAsnLysCysLeuArgLysAspAlaGluSerArgArgArgGluLeuHisIleArgThrTyrAlaValIleProLeuAsnAspGluCysGlyIleIleGluTrpValAsnAsnThrAlaGlyLeuArgProIleLeuThrLysLeuTyrLysGluLysGlyValTyrMetThrGlyLysGluLeuArgGlnCysMetLeuProLysSerAlaAlaLeuSerGluLysLeuLysValPheArgGluPheLeuLeuProArgHisProProIlePheHisGluTrpPheLeuArgThrPheProAspProThrSerTrpTyrSerSerArgSerAlaTyrCysArgSerThrAlaValMetSerMetValGlyTyrIleLeuGlyLeuGlyAspArgHisGlyGluAsnIleLeuPheAspSerLeuThrGlyGluCysValHisValAspPheAsnCysLeuPheAsnLysGlyGluThrPheGluValProGluIleValProPheArgLeuThrHisAsnMetValAsnGlyMetGlyProMetGlyThrGluGlyLeuPheArgArgAlaCysGluValThrMetArgLeuMetArgAspGlnArgGluProLeuMetSerValLeuLysThrPheLeuHisAspProLeuValGluTrpSerLysProValLysGlyHisSerLysAlaProLeuAsnGluThrGlyGluValValAsnGluLysAlaLysThrHisValLeuAspIleGluGlnArgLeuGlnGlyValIleLysThrArgAsnArgValThrGlyLeuProLeuSerIleGluGlyHisValHisTyrLeuIleGlnGluAlaThrAspGluAsnLeuLeuCysGlnMetTyrLeuGlyTrpThrProTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262712" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "ENST00000513291.1:c.70G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343069" }, { "@id": "http://reg.genome.network/allele/PA3068736814", "coordinates": [ { "allele": "A", "end": 6653, "referenceAllele": "G", "start": 6652 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "NM_001184.3:c.6531G>A" ], "proteinEffect": { "hgvs": "NP_001175.2:p.Trp2177Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS015907" }, { "coordinates": [ { "allele": "A", "end": 6626, "referenceAllele": "G", "start": 6625 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XM_011512924.1:c.6537G>A" ], "proteinEffect": { "hgvs": "XP_011511226.1:p.Trp2179Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080179" }, { "coordinates": [ { "allele": "A", "end": 6434, "referenceAllele": "G", "start": 6433 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XM_011512925.1:c.6345G>A" ], "proteinEffect": { "hgvs": "XP_011511227.1:p.Trp2115Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080180" }, { "coordinates": [ { "allele": "A", "end": 6626, "referenceAllele": "G", "start": 6625 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XR_924147.1:n.6626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121207" }, { "coordinates": [ { "allele": "A", "end": 6626, "referenceAllele": "G", "start": 6625 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XR_924148.1:n.6626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121208" }, { "coordinates": [ { "allele": "A", "end": 6505, "referenceAllele": "G", "start": 6504 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XR_924149.1:n.6505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121209" }, { "coordinates": [ { "allele": "A", "end": 6461, 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"NP_001341508.1:p.Trp2113_Met2580delinsMetMetThrAlaValSerLysSerSerTyrProMetArgValAsnArgCysLysGluIleLeuAsnLysAlaIleHisMetLysLysSerLeuGluLysPheValGlyAspAlaThrArgLeuThrAspLysLeuLeuGluLeuCysAsnLysProValAspGlySerSerSerThrLeuSerMetSerThrHisPheLysMetLeuLysLysLeuValGluGluAlaThrPheSerGluIleLeuIleProLeuGlnSerValMetIleProThrLeuProSerIleLeuGlyThrHisAlaAsnHisAlaSerHisGluProPheProGlyHisTrpAlaTyrIleAlaGlyPheAspAspMetValGluIleLeuAlaSerLeuGlnLysProLysLysIleSerLeuLysGlySerAspGlyLysPheTyrIleMetMetCysLysProLysAspAspLeuArgLysAspCysArgLeuMetGluPheAsnSerLeuIleAsnLysCysLeuArgLysAspAlaGluSerArgArgArgGluLeuHisIleArgThrTyrAlaValIleProLeuAsnAspGluCysGlyIleIleGluTrpValAsnAsnThrAlaGlyLeuArgProIleLeuThrLysLeuTyrLysGluLysGlyValTyrMetThrGlyLysGluLeuArgGlnCysMetLeuProLysSerAlaAlaLeuSerGluLysLeuLysValPheArgGluPheLeuLeuProArgHisProProIlePheHisGluTrpPheLeuArgThrPheProAspProThrSerTrpTyrSerSerArgSerAlaTyrCysArgSerThrAlaValMetSerMetValGlyTyrIleLeuGlyLeuGlyAspArgHisGlyGluAsnIleLeuPheAspSerLeuThrGlyGluCysValHisValAspPheAsnCysLeuPheAsnLysGlyGluThrPheGluValProGluIleValProPheArgLeuThrHisAsnMetValAsnGlyMetGlyProMetGlyThrGluGlyLeuPheArgArgAlaCysGluValThrMetArgLeuMetArgAspGlnArgGluProLeuMetSerValLeuLysThrPheLeuHisAspProLeuValGluTrpSerLysProValLysGlyHisSerLysAlaProLeuAsnGluThrGlyGluValValAsnGluLysAlaLysThrHisValLeuAspIleGluGlnArgLeuGlnGlyValIleLysThrArgAsnArgValThrGlyLeuProLeuSerIleGluGlyHisValHisTyrLeuIleGlnGluAlaThrAspGluAsnLeuLeuCysGlnMetTyrLeuGlyTrpThrProTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522532" }, { "coordinates": [ { "allele": "A", "end": 6620, "referenceAllele": "G", "start": 6619 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XR_001740179.2:n.6620G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590409" }, { "coordinates": [ { "allele": "A", "end": 6626, "referenceAllele": "G", "start": 6625 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "XR_924148.2:n.6626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS607619" }, { "@id": "http://reg.genome.network/allele/PA3068736814", "coordinates": [ { "allele": "A", "end": 6560, "referenceAllele": "G", "start": 6559 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "NM_001184.4:c.6531G>A" ], "proteinEffect": { "hgvs": "NP_001175.2:p.Trp2177Ter", "hgvsWellDefined": "NP_001175.2:p.Trp2177_Met2644delinsMetMetThrAlaValSerLysSerSerTyrProMetArgValAsnArgCysLysGluIleLeuAsnLysAlaIleHisMetLysLysSerLeuGluLysPheValGlyAspAlaThrArgLeuThrAspLysLeuLeuGluLeuCysAsnLysProValAspGlySerSerSerThrLeuSerMetSerThrHisPheLysMetLeuLysLysLeuValGluGluAlaThrPheSerGluIleLeuIleProLeuGlnSerValMetIleProThrLeuProSerIleLeuGlyThrHisAlaAsnHisAlaSerHisGluProPheProGlyHisTrpAlaTyrIleAlaGlyPheAspAspMetValGluIleLeuAlaSerLeuGlnLysProLysLysIleSerLeuLysGlySerAspGlyLysPheTyrIleMetMetCysLysProLysAspAspLeuArgLysAspCysArgLeuMetGluPheAsnSerLeuIleAsnLysCysLeuArgLysAspAlaGluSerArgArgArgGluLeuHisIleArgThrTyrAlaValIleProLeuAsnAspGluCysGlyIleIleGluTrpValAsnAsnThrAlaGlyLeuArgProIleLeuThrLysLeuTyrLysGluLysGlyValTyrMetThrGlyLysGluLeuArgGlnCysMetLeuProLysSerAlaAlaLeuSerGluLysLeuLysValPheArgGluPheLeuLeuProArgHisProProIlePheHisGluTrpPheLeuArgThrPheProAspProThrSerTrpTyrSerSerArgSerAlaTyrCysArgSerThrAlaValMetSerMetValGlyTyrIleLeuGlyLeuGlyAspArgHisGlyGluAsnIleLeuPheAspSerLeuThrGlyGluCysValHisValAspPheAsnCysLeuPheAsnLysGlyGluThrPheGluValProGluIleValProPheArgLeuThrHisAsnMetValAsnGlyMetGlyProMetGlyThrGluGlyLeuPheArgArgAlaCysGluValThrMetArgLeuMetArgAspGlnArgGluProLeuMetSerValLeuLysThrPheLeuHisAspProLeuValGluTrpSerLysProValLysGlyHisSerLysAlaProLeuAsnGluThrGlyGluValValAsnGluLysAlaLysThrHisValLeuAspIleGluGlnArgLeuGlnGlyValIleLysThrArgAsnArgValThrGlyLeuProLeuSerIleGluGlyHisValHisTyrLeuIleGlnGluAlaThrAspGluAsnLeuLeuCysGlnMetTyrLeuGlyTrpThrProTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000350721.9:c.6531G>A" }, "RefSeq": { "hgvs": "NM_001184.4:c.6531G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343741.4:p.Trp2177Ter" }, "RefSeq": { "hgvs": "NP_001175.2:p.Trp2177Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6368, "referenceAllele": "G", "start": 6367 } ], "gene": "http://reg.genome.network/gene/GN000882", "geneNCBI_id": 545, "geneSymbol": "ATR", "hgvs": [ "NM_001354579.2:c.6339G>A" ], "proteinEffect": { "hgvs": "NP_001341508.1:p.Trp2113Ter", "hgvsWellDefined": "NP_001341508.1:p.Trp2113_Met2580delinsMetMetThrAlaValSerLysSerSerTyrProMetArgValAsnArgCysLysGluIleLeuAsnLysAlaIleHisMetLysLysSerLeuGluLysPheValGlyAspAlaThrArgLeuThrAspLysLeuLeuGluLeuCysAsnLysProValAspGlySerSerSerThrLeuSerMetSerThrHisPheLysMetLeuLysLysLeuValGluGluAlaThrPheSerGluIleLeuIleProLeuGlnSerValMetIleProThrLeuProSerIleLeuGlyThrHisAlaAsnHisAlaSerHisGluProPheProGlyHisTrpAlaTyrIleAlaGlyPheAspAspMetValGluIleLeuAlaSerLeuGlnLysProLysLysIleSerLeuLysGlySerAspGlyLysPheTyrIleMetMetCysLysProLysAspAspLeuArgLysAspCysArgLeuMetGluPheAsnSerLeuIleAsnLysCysLeuArgLysAspAlaGluSerArgArgArgGluLeuHisIleArgThrTyrAlaValIleProLeuAsnAspGluCysGlyIleIleGluTrpValAsnAsnThrAlaGlyLeuArgProIleLeuThrLysLeuTyrLysGluLysGlyValTyrMetThrGlyLysGluLeuArgGlnCysMetLeuProLysSerAlaAlaLeuSerGluLysLeuLysValPheArgGluPheLeuLeuProArgHisProProIlePheHisGluTrpPheLeuArgThrPheProAspProThrSerTrpTyrSerSerArgSerAlaTyrCysArgSerThrAlaValMetSerMetValGlyTyrIleLeuGlyLeuGlyAspArgHisGlyGluAsnIleLeuPheAspSerLeuThrGlyGluCysValHisValAspPheAsnCysLeuPheAsnLysGlyGluThrPheGluValProGluIleValProPheArgLeuThrHisAsnMetValAsnGlyMetGlyProMetGlyThrGluGlyLeuPheArgArgAlaCysGluValThrMetArgLeuMetArgAspGlnArgGluProLeuMetSerValLeuLysThrPheLeuHisAspProLeuValGluTrpSerLysProValLysGlyHisSerLysAlaProLeuAsnGluThrGlyGluValValAsnGluLysAlaLysThrHisValLeuAspIleGluGlnArgLeuGlnGlyValIleLysThrArgAsnArgValThrGlyLeuProLeuSerIleGluGlyHisValHisTyrLeuIleGlnGluAlaThrAspGluAsnLeuLeuCysGlnMetTyrLeuGlyTrpThrProTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690236" } ], "type": "nucleotide" }