{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252120", "communityStandardTitle": [ "NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3855033", "active": true, "id": "COSM3855033" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3855034", "active": true, "id": "COSM3855034" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17185[alleleid]", "alleleId": 17185, "preferredName": "NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2146", "RCV": [ "RCV000002228" ], "variationId": 2146 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37020717C>T?assembly=hg19", "id": "chr5:g.37020717C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37020615C>T?assembly=hg38", "id": "chr5:g.37020615C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918267", "rs": 121918267 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37020615, "referenceAllele": "C", "start": 37020614 } ], "hgvs": [ "NC_000005.10:g.37020615C>T", "CM000667.2:g.37020615C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37020717, "referenceAllele": "C", "start": 37020716 } ], "hgvs": [ "NC_000005.9:g.37020717C>T", "CM000667.1:g.37020717C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37056474, "referenceAllele": "C", "start": 37056473 } ], "hgvs": [ "NC_000005.8:g.37056474C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 148733, "referenceAllele": "C", "start": 148732 } ], "hgvs": [ "NG_006987.1:g.148733C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000441" }, { "coordinates": [ { "allele": "T", "end": 148733, "referenceAllele": "C", "start": 148732 } ], "hgvs": [ "NG_006987.2:g.148733C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673476" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5656, "referenceAllele": "C", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.13:c.5167C>T" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Arg1723Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS743670", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.5167C>T" }, "RefSeq": { "hgvs": "NM_133433.4:c.5167C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Arg1723Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Arg1723Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5584, "referenceAllele": "C", "start": 5583 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000652901.1:c.5167C>T" ], "proteinEffect": { "hgvs": "ENSP00000499536.1:p.Arg1723Ter", "hgvsWellDefined": "ENSP00000499536.1:p.Arg1723_His2649delinsLysLysPheLeuArgSerIleIleLysThrThrProSerGlnPheSerThrLeuLysMetAsnSerAspThrValAspTyrAspAspAlaCysLeuIleValArgTyrLeuAlaSerMetArgProPheAlaGlnSerPheAspIleTyrLeuThrGlnIleLeuArgValLeuGlyGluAsnAlaIleAlaValArgThrLysAlaMetLysCysLeuSerGluValValAlaValAspProSerIleLeuAlaArgLeuAspMetGlnArgGlyValHisGlyArgLeuMetAspAsnSerThrSerValArgGluAlaAlaValGluLeuLeuGlyArgPheValLeuCysArgProGlnLeuAlaGluGlnTyrTyrAspMetLeuIleGluArgIleLeuAspThrGlyIleSerValArgLysArgValIleLysIleLeuArgAspIleCysIleGluGlnProThrPheProLysIleThrGluMetCysValLysMetIleArgArgValAsnAspGluGluGlyIleLysLysLeuValAsnGluThrPheGlnLysLeuTrpPheThrProThrProHisAsnAspLysGluAlaMetThrArgLysIleLeuAsnIleThrAspValValAlaAlaCysArgAspThrGlyTyrAspTrpPheGluGlnLeuLeuGlnAsnLeuLeuLysSerGluGluAspSerSerTyrLysProValLysLysAlaCysThrGlnLeuValAspAsnLeuValGluHisIleLeuLysTyrGluGluSerLeuAlaAspSerAspAsnLysGlyValAsnSerGlyArgLeuValAlaCysIleThrThrLeuPheLeuPheSerLysIleArgProGlnLeuMetValLysHisAlaMetThrMetGlnProTyrLeuThrThrLysCysSerThrGlnAsnAspPheMetValIleCysAsnValAlaLysIleLeuGluLeuValValProLeuMetGluHisProSerGluThrPheLeuAlaThrIleGluGluAspLeuMetLysLeuIleIleLysTyrGlyMetThrValValGlnHisCysValSerCysLeuGlyAlaValValAsnLysValThrGlnAsnPheLysPheValTrpAlaCysPheAsnArgTyrTyrGlyAlaIleSerLysLeuLysSerGlnHisGlnGluAspProAsnAsnThrSerLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772402" }, { "coordinates": [ { "allele": "T", "end": 5666, "referenceAllele": "C", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.12:c.5167C>T" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Arg1723Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS253093" }, { "coordinates": [ { "allele": "T", "end": 5635, "referenceAllele": "C", "start": 5634 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000448238.2:c.5167C>T" ], "proteinEffect": { "hgvs": "ENSP00000406266.2:p.Arg1723Ter", "hgvsWellDefined": "ENSP00000406266.2:p.Arg1723_Thr2697delinsLysLysPheLeuArgSerIleIleLysThrThrProSerGlnPheSerThrLeuLysMetAsnSerAspThrValAspTyrAspAspAlaCysLeuIleValArgTyrLeuAlaSerMetArgProPheAlaGlnSerPheAspIleTyrLeuThrGlnIleLeuArgValLeuGlyGluAsnAlaIleAlaValArgThrLysAlaMetLysCysLeuSerGluValValAlaValAspProSerIleLeuAlaArgLeuAspMetGlnArgGlyValHisGlyArgLeuMetAspAsnSerThrSerValArgGluAlaAlaValGluLeuLeuGlyArgPheValLeuCysArgProGlnLeuAlaGluGlnTyrTyrAspMetLeuIleGluArgIleLeuAspThrGlyIleSerValArgLysArgValIleLysIleLeuArgAspIleCysIleGluGlnProThrPheProLysIleThrGluMetCysValLysMetIleArgArgValAsnAspGluGluGlyIleLysLysLeuValAsnGluThrPheGlnLysLeuTrpPheThrProThrProHisAsnAspLysGluAlaMetThrArgLysIleLeuAsnIleThrAspValValAlaAlaCysArgAspThrGlyTyrAspTrpPheGluGlnLeuLeuGlnAsnLeuLeuLysSerGluGluAspSerSerTyrLysProValLysLysAlaCysThrGlnLeuValAspAsnLeuValGluHisIleLeuLysTyrGluGluSerLeuAlaAspSerAspAsnLysGlyValAsnSerGlyArgLeuValAlaCysIleThrThrLeuPheLeuPheSerLysIleArgProGlnLeuMetValLysHisAlaMetThrMetGlnProTyrLeuThrThrLysCysSerThrGlnAsnAspPheMetValIleCysAsnValAlaLysIleLeuGluLeuValValProLeuMetGluHisProSerGluThrPheLeuAlaThrIleGluGluAspLeuMetLysLeuIleIleLysTyrGlyMetThrValValGlnHisCysValSerCysLeuGlyAlaValValAsnLysValThrGlnAsnPheLysPheValTrpAlaCysPheAsnArgTyrTyrGlyAlaIleSerLysLeuLysSerGlnHisGlnGluAspProAsnAsnThrSerLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299633" }, { "coordinates": [ { "allele": "T", "end": 22, "endIntronDirection": "-", "endIntronOffset": 43962, "referenceAllele": "C", "start": 22, "startIntronDirection": "-", "startIntronOffset": 43963 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000621733.1:c.1-43963C>T" ], "proteinEffect": { "hgvs": "ENSP00000480694.1:n.1-43963C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405408" }, { "@id": "http://reg.genome.network/allele/PA252121", "coordinates": [ { "allele": "T", "end": 5666, "referenceAllele": "C", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.4:c.5167C>T" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Arg1723Ter", "hgvsWellDefined": "NP_056199.2:p.Arg1723_Thr2697delinsLysLysPheLeuArgSerIleIleLysThrThrProSerGlnPheSerThrLeuLysMetAsnSerAspThrValAspTyrAspAspAlaCysLeuIleValArgTyrLeuAlaSerMetArgProPheAlaGlnSerPheAspIleTyrLeuThrGlnIleLeuArgValLeuGlyGluAsnAlaIleAlaValArgThrLysAlaMetLysCysLeuSerGluValValAlaValAspProSerIleLeuAlaArgLeuAspMetGlnArgGlyValHisGlyArgLeuMetAspAsnSerThrSerValArgGluAlaAlaValGluLeuLeuGlyArgPheValLeuCysArgProGlnLeuAlaGluGlnTyrTyrAspMetLeuIleGluArgIleLeuAspThrGlyIleSerValArgLysArgValIleLysIleLeuArgAspIleCysIleGluGlnProThrPheProLysIleThrGluMetCysValLysMetIleArgArgValAsnAspGluGluGlyIleLysLysLeuValAsnGluThrPheGlnLysLeuTrpPheThrProThrProHisAsnAspLysGluAlaMetThrArgLysIleLeuAsnIleThrAspValValAlaAlaCysArgAspThrGlyTyrAspTrpPheGluGlnLeuLeuGlnAsnLeuLeuLysSerGluGluAspSerSerTyrLysProValLysLysAlaCysThrGlnLeuValAspAsnLeuValGluHisIleLeuLysTyrGluGluSerLeuAlaAspSerAspAsnLysGlyValAsnSerGlyArgLeuValAlaCysIleThrThrLeuPheLeuPheSerLysIleArgProGlnLeuMetValLysHisAlaMetThrMetGlnProTyrLeuThrThrLysCysSerThrGlnAsnAspPheMetValIleCysAsnValAlaLysIleLeuGluLeuValValProLeuMetGluHisProSerGluThrPheLeuAlaThrIleGluGluAspLeuMetLysLeuIleIleLysTyrGlyMetThrValValGlnHisCysValSerCysLeuGlyAlaValValAsnLysValThrGlnAsnPheLysPheValTrpAlaCysPheAsnArgTyrTyrGlyAlaIleSerLysLeuLysSerGlnHisGlnGluAspProAsnAsnThrSerLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033980" }, { "coordinates": [ { "allele": "T", "end": 5666, "referenceAllele": "C", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.3:c.5167C>T" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Arg1723Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS040510" }, { "coordinates": [ { "allele": "T", "end": 5655, "referenceAllele": "C", "start": 5654 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.2:c.5167C>T" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Arg1723Ter", "hgvsWellDefined": "XP_005248337.1:p.Arg1723_His2698delinsLysLysPheLeuArgSerIleIleLysThrThrProSerGlnPheSerThrLeuLysMetAsnSerAspThrValAspTyrAspAspAlaCysLeuIleValArgTyrLeuAlaSerMetArgProPheAlaGlnSerPheAspIleTyrLeuThrGlnIleLeuArgValLeuGlyGluAsnAlaIleAlaValArgThrLysAlaMetLysCysLeuSerGluValValAlaValAspProSerIleLeuAlaArgLeuAspMetGlnArgGlyValHisGlyArgLeuMetAspAsnSerThrSerValArgGluAlaAlaValGluLeuLeuGlyArgPheValLeuCysArgProGlnLeuAlaGluGlnTyrTyrAspMetLeuIleGluArgIleLeuAspThrGlyIleSerValArgLysArgValIleLysIleLeuArgAspIleCysIleGluGlnProThrPheProLysIleThrGluMetCysValLysMetIleArgArgValAsnAspGluGluGlyIleLysLysLeuValAsnGluThrPheGlnLysLeuTrpPheThrProThrProHisAsnAspLysGluAlaMetThrArgLysIleLeuAsnIleThrAspValValAlaAlaCysArgAspThrGlyTyrAspTrpPheGluGlnLeuLeuGlnAsnLeuLeuLysSerGluGluAspSerSerTyrLysProValLysLysAlaCysThrGlnLeuValAspAsnLeuValGluHisIleLeuLysTyrGluGluSerLeuAlaAspSerAspAsnLysGlyValAsnSerGlyArgLeuValAlaCysIleThrThrLeuPheLeuPheSerLysIleArgProGlnLeuMetValLysHisAlaMetThrMetGlnProTyrLeuThrThrLysCysSerThrGlnAsnAspPheMetValIleCysAsnValAlaLysIleLeuGluLeuValValProLeuMetGluHisProSerGluThrPheLeuAlaThrIleGluGluAspLeuMetLysLeuIleIleLysTyrGlyMetThrValValGlnHisCysValSerCysLeuGlyAlaValValAsnLysValThrGlnAsnPheLysPheValTrpAlaCysPheAsnArgTyrTyrGlyAlaIleSerLysLeuLysSerGlnHisGlnGluAspProAsnAsnThrSerLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563672" }, { "coordinates": [ { "allele": "T", "end": 5280, "referenceAllele": "C", "start": 5279 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009330.2:c.3550C>T" ], "proteinEffect": { "hgvs": "XP_016864819.1:p.Arg1184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS563673" }, { "coordinates": [ { "allele": "T", "end": 4029, "referenceAllele": "C", "start": 4028 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009331.1:c.3541C>T" ], "proteinEffect": { "hgvs": "XP_016864820.1:p.Arg1181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS563674" }, { "coordinates": [ { "allele": "T", "end": 5656, "referenceAllele": "C", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.4:c.5167C>T" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Arg1723Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS671832", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.5167C>T" }, "RefSeq": { "hgvs": "NM_133433.4:c.5167C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Arg1723Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Arg1723Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA252121", "coordinates": [ { "allele": "T", "end": 5656, "referenceAllele": "C", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.5:c.5167C>T" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Arg1723Ter", "hgvsWellDefined": "NP_056199.2:p.Arg1723_Thr2697delinsLysLysPheLeuArgSerIleIleLysThrThrProSerGlnPheSerThrLeuLysMetAsnSerAspThrValAspTyrAspAspAlaCysLeuIleValArgTyrLeuAlaSerMetArgProPheAlaGlnSerPheAspIleTyrLeuThrGlnIleLeuArgValLeuGlyGluAsnAlaIleAlaValArgThrLysAlaMetLysCysLeuSerGluValValAlaValAspProSerIleLeuAlaArgLeuAspMetGlnArgGlyValHisGlyArgLeuMetAspAsnSerThrSerValArgGluAlaAlaValGluLeuLeuGlyArgPheValLeuCysArgProGlnLeuAlaGluGlnTyrTyrAspMetLeuIleGluArgIleLeuAspThrGlyIleSerValArgLysArgValIleLysIleLeuArgAspIleCysIleGluGlnProThrPheProLysIleThrGluMetCysValLysMetIleArgArgValAsnAspGluGluGlyIleLysLysLeuValAsnGluThrPheGlnLysLeuTrpPheThrProThrProHisAsnAspLysGluAlaMetThrArgLysIleLeuAsnIleThrAspValValAlaAlaCysArgAspThrGlyTyrAspTrpPheGluGlnLeuLeuGlnAsnLeuLeuLysSerGluGluAspSerSerTyrLysProValLysLysAlaCysThrGlnLeuValAspAsnLeuValGluHisIleLeuLysTyrGluGluSerLeuAlaAspSerAspAsnLysGlyValAsnSerGlyArgLeuValAlaCysIleThrThrLeuPheLeuPheSerLysIleArgProGlnLeuMetValLysHisAlaMetThrMetGlnProTyrLeuThrThrLysCysSerThrGlnAsnAspPheMetValIleCysAsnValAlaLysIleLeuGluLeuValValProLeuMetGluHisProSerGluThrPheLeuAlaThrIleGluGluAspLeuMetLysLeuIleIleLysTyrGlyMetThrValValGlnHisCysValSerCysLeuGlyAlaValValAsnLysValThrGlnAsnPheLysPheValTrpAlaCysPheAsnArgTyrTyrGlyAlaIleSerLysLeuLysSerGlnHisGlnGluAspProAsnAsnThrSerLeuLeuThrAsnLysProAlaLeuLeuArgSerLeuPheThrValGlyAlaLeuCysArgHisPheAspPheAspLeuGluAspPheLysGlyAsnSerLysValAsnIleLysAspLysValLeuGluLeuLeuMetTyrPheThrLysHisSerAspGluGluValGlnThrLysAlaIleIleGlyLeuGlyPheAlaPheIleGlnHisProSerLeuMetPheGluGlnGluValLysAsnLeuTyrAsnAsnIleLeuSerAspLysAsnSerSerValAsnLeuLysIleGlnValLeuLysAsnLeuGlnThrTyrLeuGlnGluGluAspThrArgMetGlnGlnAlaAspArgAspTrpLysLysValAlaLysGlnGluAspLeuLysGluMetGlyAspValSerSerGlyMetSerSerSerIleMetGlnLeuTyrLeuLysGlnValLeuGluAlaPhePheHisThrGlnSerSerValArgHisPheAlaLeuAsnValIleAlaLeuThrLeuAsnGlnGlyLeuIleHisProValGlnCysValProTyrLeuIleAlaMetGlyThrAspProGluProAlaMetArgAsnLysAlaAspGlnGlnLeuValGluIleAspLysLysTyrAlaGlyPheIleHisMetLysAlaValAlaGlyMetLysMetSerTyrGlnValGlnGlnAlaIleAsnThrCysLeuLysAspProValArgGlyPheArgGlnAspGluSerSerSerAlaLeuCysSerHisLeuTyrSerMetIleArgGlyAsnArgGlnHisArgArgAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697529" } ], "type": "nucleotide" }