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}, "referenceSequence": "http://reg.genome.network/refseq/RS081240" }, { "coordinates": [ { "allele": "T", "end": 7751, "endIntronDirection": "-", "endIntronOffset": 3594, "referenceAllele": "C", "start": 7751, "startIntronDirection": "-", "startIntronOffset": 3595 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_011514015.1:c.7264-3595C>T" ], "proteinEffect": { "hgvs": "XP_011512317.1:n.7264-3595C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS081241" }, { "coordinates": [ { "allele": "T", "end": 7815, "referenceAllele": "C", "start": 7814 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.3:c.7327C>T" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Gln2443Ter", "hgvsWellDefined": "XP_005248337.1:p.Gln2443_His2698delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533037" }, { "coordinates": [ { "allele": "T", "end": 7316, "referenceAllele": "C", "start": 7315 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248282.5:c.6667C>T" ], "proteinEffect": { "hgvs": "XP_005248339.3:p.Gln2223Ter", "hgvsWellDefined": "XP_005248339.3:p.Gln2223_Ser2584delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533038" }, { "coordinates": [ { "allele": "T", "end": 7617, "referenceAllele": "C", "start": 7616 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714468.2:c.7129C>T" ], "proteinEffect": { "hgvs": "XP_006714531.1:p.Gln2377Ter", "hgvsWellDefined": "XP_006714531.1:p.Gln2377_Ser2738delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538720" }, { "coordinates": [ { "allele": "T", "end": 7751, "endIntronDirection": "-", "endIntronOffset": 1641, "referenceAllele": "C", "start": 7751, "startIntronDirection": "-", "startIntronOffset": 1642 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009329.1:c.7264-1642C>T" ], "proteinEffect": { "hgvs": "XP_016864818.1:n.7264-1642C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS563672" }, { "coordinates": [ { "allele": "T", "end": 7440, "referenceAllele": "C", "start": 7439 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009330.2:c.5710C>T" ], "proteinEffect": { "hgvs": "XP_016864819.1:p.Gln1904Ter", "hgvsWellDefined": "XP_016864819.1:p.Gln1904_Ser2265delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563673" }, { "coordinates": [ { "allele": "T", "end": 6189, "referenceAllele": "C", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009331.1:c.5701C>T" ], "proteinEffect": { "hgvs": "XP_016864820.1:p.Gln1901Ter", "hgvsWellDefined": "XP_016864820.1:p.Gln1901_Ser2262delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563674" }, { "@id": "http://reg.genome.network/allele/PA267565", "coordinates": [ { "allele": "T", "end": 7816, "referenceAllele": "C", "start": 7815 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.4:c.7327C>T" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Gln2443Ter", "hgvsWellDefined": "NP_597677.2:p.Gln2443_Ser2804delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671832", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.7327C>T" }, "RefSeq": { "hgvs": "NM_133433.4:c.7327C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Gln2443Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Gln2443Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA267564", "coordinates": [ { "allele": "T", "end": 7816, "referenceAllele": "C", "start": 7815 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.5:c.7327C>T" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Gln2443Ter", "hgvsWellDefined": "NP_056199.2:p.Gln2443_Thr2697delinsGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697529" } ], "type": "nucleotide" }