{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA359504290", "communityStandardTitle": [ "NM_133433.4(NIPBL):c.6395C>A (p.Ser2132Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37045596C>A?assembly=hg19", "id": "chr5:g.37045596C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37045494C>A?assembly=hg38", "id": "chr5:g.37045494C>A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37045494, "referenceAllele": "C", "start": 37045493 } ], "hgvs": [ "NC_000005.10:g.37045494C>A", "CM000667.2:g.37045494C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37045596, "referenceAllele": "C", "start": 37045595 } ], "hgvs": [ "NC_000005.9:g.37045596C>A", "CM000667.1:g.37045596C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37081353, "referenceAllele": "C", "start": 37081352 } ], "hgvs": [ "NC_000005.8:g.37081353C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 173612, "referenceAllele": "C", "start": 173611 } ], "hgvs": [ "NG_006987.1:g.173612C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000441" }, { "coordinates": [ { "allele": "A", "end": 173612, "referenceAllele": "C", "start": 173611 } ], "hgvs": [ "NG_006987.2:g.173612C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673476" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6884, "referenceAllele": "C", "start": 6883 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.13:c.6395C>A" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Ser2132Ter", "hgvsWellDefined": "ENSP00000282516.8:p.Ser2132_Ser2804delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743670", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.6395C>A" }, "RefSeq": { "hgvs": "NM_133433.4:c.6395C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Ser2132Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Ser2132Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6812, "referenceAllele": "C", "start": 6811 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000652901.1:c.6395C>A" ], "proteinEffect": { "hgvs": "ENSP00000499536.1:p.Ser2132Ter", "hgvsWellDefined": "ENSP00000499536.1:p.Ser2132_His2649delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772402" }, { "coordinates": [ { "allele": "A", "end": 6894, "referenceAllele": "C", "start": 6893 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.12:c.6395C>A" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Ser2132Ter", "hgvsWellDefined": "ENSP00000282516.8:p.Ser2132_Ser2804delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253093" }, { "coordinates": [ { "allele": "A", "end": 6863, "referenceAllele": "C", "start": 6862 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000448238.2:c.6395C>A" ], "proteinEffect": { "hgvs": "ENSP00000406266.2:p.Ser2132Ter", "hgvsWellDefined": "ENSP00000406266.2:p.Ser2132_Thr2697delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299633" }, { "coordinates": [ { "allele": "A", "end": 22, "endIntronDirection": "-", "endIntronOffset": 19083, "referenceAllele": "C", "start": 22, "startIntronDirection": "-", "startIntronOffset": 19084 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000621733.1:c.1-19084C>A" ], "proteinEffect": { "hgvs": "ENSP00000480694.1:n.1-19084C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405408" }, { "coordinates": [ { "allele": "A", "end": 6894, "referenceAllele": "C", "start": 6893 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.4:c.6395C>A" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Ser2132Ter", "hgvsWellDefined": "NP_056199.2:p.Ser2132_Thr2697delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033980" }, { "coordinates": [ { "allele": "A", "end": 6894, "referenceAllele": "C", "start": 6893 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.3:c.6395C>A" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Ser2132Ter", "hgvsWellDefined": "NP_597677.2:p.Ser2132_Ser2804delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040510" }, { "coordinates": [ { "allele": "A", "end": 6883, "referenceAllele": "C", "start": 6882 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.2:c.6395C>A" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Ser2132Ter", "hgvsWellDefined": "XP_005248337.1:p.Ser2132_His2698delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058379" }, { "coordinates": [ { "allele": "A", "end": 5722, "referenceAllele": "C", "start": 5721 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248282.3:c.5651C>A" ], "proteinEffect": { "hgvs": "XP_005248339.2:p.Ser1884Ter", "hgvsWellDefined": "XP_005248339.2:p.Ser1884_Ser2556delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058380" }, { "coordinates": [ { "allele": "A", "end": 6883, "referenceAllele": "C", "start": 6882 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714467.2:c.6395C>A" ], "proteinEffect": { "hgvs": "XP_006714530.1:p.Ser2132Ter", "hgvsWellDefined": "XP_006714530.1:p.Ser2132_Ser2755delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070673" }, { "coordinates": [ { "allele": "A", "end": 6685, "referenceAllele": "C", "start": 6684 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714468.1:c.6197C>A" ], "proteinEffect": { "hgvs": "XP_006714531.1:p.Ser2066Ter", "hgvsWellDefined": "XP_006714531.1:p.Ser2066_Ser2738delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070674" }, { "coordinates": [ { "allele": "A", "end": 6502, "referenceAllele": "C", "start": 6501 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_011514014.1:c.6014C>A" ], "proteinEffect": { "hgvs": "XP_011512316.1:p.Ser2005Ter", "hgvsWellDefined": "XP_011512316.1:p.Ser2005_Ser2677delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081240" }, { "coordinates": [ { "allele": "A", "end": 6883, "referenceAllele": "C", "start": 6882 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_011514015.1:c.6395C>A" ], "proteinEffect": { "hgvs": "XP_011512317.1:p.Ser2132Ter", "hgvsWellDefined": "XP_011512317.1:p.Ser2132_Ala2421delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081241" }, { "coordinates": [ { "allele": "A", "end": 6883, "referenceAllele": "C", "start": 6882 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.3:c.6395C>A" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Ser2132Ter", "hgvsWellDefined": "XP_005248337.1:p.Ser2132_His2698delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533037" }, { "coordinates": [ { "allele": "A", "end": 6384, "referenceAllele": "C", "start": 6383 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248282.5:c.5735C>A" ], "proteinEffect": { "hgvs": "XP_005248339.3:p.Ser1912Ter", "hgvsWellDefined": "XP_005248339.3:p.Ser1912_Ser2584delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533038" }, { "coordinates": [ { "allele": "A", "end": 6685, "referenceAllele": "C", "start": 6684 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714468.2:c.6197C>A" ], "proteinEffect": { "hgvs": "XP_006714531.1:p.Ser2066Ter", "hgvsWellDefined": "XP_006714531.1:p.Ser2066_Ser2738delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538720" }, { "coordinates": [ { "allele": "A", "end": 6883, "referenceAllele": "C", "start": 6882 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009329.1:c.6395C>A" ], "proteinEffect": { "hgvs": "XP_016864818.1:p.Ser2132Ter", "hgvsWellDefined": "XP_016864818.1:p.Ser2132_His2649delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563672" }, { "coordinates": [ { "allele": "A", "end": 6508, "referenceAllele": "C", "start": 6507 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009330.2:c.4778C>A" ], "proteinEffect": { "hgvs": "XP_016864819.1:p.Ser1593Ter", "hgvsWellDefined": "XP_016864819.1:p.Ser1593_Ser2265delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563673" }, { "coordinates": [ { "allele": "A", "end": 5257, "referenceAllele": "C", "start": 5256 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009331.1:c.4769C>A" ], "proteinEffect": { "hgvs": "XP_016864820.1:p.Ser1590Ter", "hgvsWellDefined": "XP_016864820.1:p.Ser1590_Ser2262delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563674" }, { "coordinates": [ { "allele": "A", "end": 6884, "referenceAllele": "C", "start": 6883 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.4:c.6395C>A" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Ser2132Ter", "hgvsWellDefined": "NP_597677.2:p.Ser2132_Ser2804delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671832", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.6395C>A" }, "RefSeq": { "hgvs": "NM_133433.4:c.6395C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Ser2132Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Ser2132Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6884, "referenceAllele": "C", "start": 6883 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.5:c.6395C>A" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Ser2132Ter", "hgvsWellDefined": "NP_056199.2:p.Ser2132_Thr2697delinsLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697529" } ], "type": "nucleotide" }