{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA224038", "communityStandardTitle": [ "NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3855049", "active": true, "id": "COSM3855049" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3855050", "active": true, "id": "COSM3855050" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102246[alleleid]", "alleleId": 102246, "preferredName": "NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96352", "RCV": [ "RCV000146719", "RCV000790738" ], "variationId": 96352 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37052624C>T?assembly=hg19", "id": "chr5:g.37052624C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37052522C>T?assembly=hg38", "id": "chr5:g.37052522C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124471", "rs": 398124471 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37052522, "referenceAllele": "C", "start": 37052521 } ], "hgvs": [ "NC_000005.10:g.37052522C>T", "CM000667.2:g.37052522C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37052624, "referenceAllele": "C", "start": 37052623 } ], "hgvs": [ "NC_000005.9:g.37052624C>T", "CM000667.1:g.37052624C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 37088381, "referenceAllele": "C", "start": 37088380 } ], "hgvs": [ "NC_000005.8:g.37088381C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 180640, "referenceAllele": "C", "start": 180639 } ], "hgvs": [ "NG_006987.1:g.180640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000441" }, { "coordinates": [ { "allele": "T", "end": 180640, "referenceAllele": "C", "start": 180639 } ], "hgvs": [ "NG_006987.2:g.180640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673476" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7708, "referenceAllele": "C", "start": 7707 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.13:c.7219C>T" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Arg2407Ter", "hgvsWellDefined": "ENSP00000282516.8:p.Arg2407_Ser2804delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743670", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.7219C>T" }, "RefSeq": { "hgvs": "NM_133433.4:c.7219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Arg2407Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Arg2407Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7636, "referenceAllele": "C", "start": 7635 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000652901.1:c.7219C>T" ], "proteinEffect": { "hgvs": "ENSP00000499536.1:p.Arg2407Ter", "hgvsWellDefined": "ENSP00000499536.1:p.Arg2407_His2649delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772402" }, { "coordinates": [ { "allele": "T", "end": 7718, "referenceAllele": "C", "start": 7717 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000282516.12:c.7219C>T" ], "proteinEffect": { "hgvs": "ENSP00000282516.8:p.Arg2407Ter", "hgvsWellDefined": "ENSP00000282516.8:p.Arg2407_Ser2804delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253093" }, { "coordinates": [ { "allele": "T", "end": 7687, "referenceAllele": "C", "start": 7686 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000448238.2:c.7219C>T" ], "proteinEffect": { "hgvs": "ENSP00000406266.2:p.Arg2407Ter", "hgvsWellDefined": "ENSP00000406266.2:p.Arg2407_Thr2697delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299633" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000514335.1:n.1101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343845" }, { "coordinates": [ { "allele": "T", "end": 22, "endIntronDirection": "-", "endIntronOffset": 12055, "referenceAllele": "C", "start": 22, "startIntronDirection": "-", "startIntronOffset": 12056 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "ENST00000621733.1:c.1-12056C>T" ], "proteinEffect": { "hgvs": "ENSP00000480694.1:n.1-12056C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405408" }, { "@id": "http://reg.genome.network/allele/PA224040", "coordinates": [ { "allele": "T", "end": 7718, "referenceAllele": "C", "start": 7717 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.4:c.7219C>T" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Arg2407Ter", "hgvsWellDefined": "NP_056199.2:p.Arg2407_Thr2697delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033980" }, { "@id": "http://reg.genome.network/allele/PA224039", "coordinates": [ { "allele": "T", "end": 7718, "referenceAllele": "C", "start": 7717 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.3:c.7219C>T" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Arg2407Ter", "hgvsWellDefined": "NP_597677.2:p.Arg2407_Ser2804delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040510" }, { "coordinates": [ { "allele": "T", "end": 7707, "referenceAllele": "C", "start": 7706 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.2:c.7219C>T" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Arg2407Ter", "hgvsWellDefined": "XP_005248337.1:p.Arg2407_His2698delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058379" }, { "coordinates": [ { "allele": "T", "end": 6546, "referenceAllele": "C", "start": 6545 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248282.3:c.6475C>T" ], "proteinEffect": { "hgvs": "XP_005248339.2:p.Arg2159Ter", "hgvsWellDefined": "XP_005248339.2:p.Arg2159_Ser2556delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058380" }, { "coordinates": [ { "allele": "T", "end": 7707, "referenceAllele": "C", "start": 7706 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714467.2:c.7219C>T" ], "proteinEffect": { "hgvs": "XP_006714530.1:p.Arg2407Ter", "hgvsWellDefined": "XP_006714530.1:p.Arg2407_Ser2755delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070673" }, { "coordinates": [ { "allele": "T", "end": 7509, "referenceAllele": "C", "start": 7508 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714468.1:c.7021C>T" ], "proteinEffect": { "hgvs": "XP_006714531.1:p.Arg2341Ter", "hgvsWellDefined": "XP_006714531.1:p.Arg2341_Ser2738delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070674" }, { "coordinates": [ { "allele": "T", "end": 7326, "referenceAllele": "C", "start": 7325 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_011514014.1:c.6838C>T" ], "proteinEffect": { "hgvs": "XP_011512316.1:p.Arg2280Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081240" }, { "coordinates": [ { "allele": "T", "end": 7707, "referenceAllele": "C", "start": 7706 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_011514015.1:c.7219C>T" ], "proteinEffect": { "hgvs": "XP_011512317.1:p.Arg2407Ter", "hgvsWellDefined": "XP_011512317.1:p.Arg2407_Ala2421delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081241" }, { "coordinates": [ { "allele": "T", "end": 7707, "referenceAllele": "C", "start": 7706 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248280.3:c.7219C>T" ], "proteinEffect": { "hgvs": "XP_005248337.1:p.Arg2407Ter", "hgvsWellDefined": "XP_005248337.1:p.Arg2407_His2698delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533037" }, { "coordinates": [ { "allele": "T", "end": 7208, "referenceAllele": "C", "start": 7207 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_005248282.5:c.6559C>T" ], "proteinEffect": { "hgvs": "XP_005248339.3:p.Arg2187Ter", "hgvsWellDefined": "XP_005248339.3:p.Arg2187_Ser2584delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533038" }, { "coordinates": [ { "allele": "T", "end": 7509, "referenceAllele": "C", "start": 7508 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_006714468.2:c.7021C>T" ], "proteinEffect": { "hgvs": "XP_006714531.1:p.Arg2341Ter", "hgvsWellDefined": "XP_006714531.1:p.Arg2341_Ser2738delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538720" }, { "coordinates": [ { "allele": "T", "end": 7707, "referenceAllele": "C", "start": 7706 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009329.1:c.7219C>T" ], "proteinEffect": { "hgvs": "XP_016864818.1:p.Arg2407Ter", "hgvsWellDefined": "XP_016864818.1:p.Arg2407_His2649delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563672" }, { "coordinates": [ { "allele": "T", "end": 7332, "referenceAllele": "C", "start": 7331 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009330.2:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_016864819.1:p.Arg1868Ter", "hgvsWellDefined": "XP_016864819.1:p.Arg1868_Ser2265delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563673" }, { "coordinates": [ { "allele": "T", "end": 6081, "referenceAllele": "C", "start": 6080 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "XM_017009331.1:c.5593C>T" ], "proteinEffect": { "hgvs": "XP_016864820.1:p.Arg1865Ter", "hgvsWellDefined": "XP_016864820.1:p.Arg1865_Ser2262delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563674" }, { "@id": "http://reg.genome.network/allele/PA224039", "coordinates": [ { "allele": "T", "end": 7708, "referenceAllele": "C", "start": 7707 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_133433.4:c.7219C>T" ], "proteinEffect": { "hgvs": "NP_597677.2:p.Arg2407Ter", "hgvsWellDefined": "NP_597677.2:p.Arg2407_Ser2804delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlySerLeuArgArgSerLysArgAsnSerAspSerThrGluLeuAlaAlaGlnMetAsnGluSerValAspValMetAspValIleAlaIleCysCysProLysTyrLysAspArgProGlnIleAlaArgValValGlnLysThrSerSerGlyPheSerValGlnTrpMetAlaGlySerTyrSerGlySerTrpThrGluAlaLysArgArgAspGlyArgLysLeuValProTrpValAspThrIleLysGluSerAspIleIleTyrLysLysIleAlaLeuThrSerAlaAsnLysLeuThrAsnLysValValGlnThrLeuArgSerLeuTyrAlaAlaLysAspGlyThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671832", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282516.13:c.7219C>T" }, "RefSeq": { "hgvs": "NM_133433.4:c.7219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282516.8:p.Arg2407Ter" }, "RefSeq": { "hgvs": "NP_597677.2:p.Arg2407Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA224040", "coordinates": [ { "allele": "T", "end": 7708, "referenceAllele": "C", "start": 7707 } ], "gene": "http://reg.genome.network/gene/GN028862", "geneNCBI_id": 25836, "geneSymbol": "NIPBL", "hgvs": [ "NM_015384.5:c.7219C>T" ], "proteinEffect": { "hgvs": "NP_056199.2:p.Arg2407Ter", "hgvsWellDefined": "NP_056199.2:p.Arg2407_Thr2697delinsAlaPheLeuIleSerLeuLeuAsnLeuPheAspAspThrAlaLysThrAspValThrMetLeuLeuTyrIleAlaAspAsnLeuAlaCysPheProTyrGlnThrGlnGluGluProLeuPheIleMetHisHisIleAspIleThrLeuSerValSerGlySerAsnLeuLeuGlnSerPheLysGluSerMetValLysAspLysArgLysGluArgLysSerSerProSerLysGluAsnGluSerSerAspSerGluGluGluValSerArgProArgLysSerArgLysArgValAspSerAspSerAspSerAspSerGluAspAspIleAsnSerValMetLysCysLeuProGluAsnSerAlaProLeuIleGluPheAlaAsnValSerGlnGlyIleLeuLeuLeuLeuMetLeuLysGlnHisLeuLysAsnLeuCysGlyPheSerAspSerLysIleGlnLysTyrSerProSerGluSerAlaLysValTyrAspLysAlaIleAsnArgLysThrGlyValHisPheHisProLysGlnThrLeuAspPheLeuArgSerAspMetAlaAsnSerLysIleThrGluGluValLysArgSerIleValLysGlnTyrLeuAspPheLysLeuLeuMetGluHisLeuAspProAspGluGluGluGluGluGlyGluValSerAlaSerThrAsnAlaArgAsnLysAlaIleThrSerLeuLeuGlyGlyGlySerProLysAsnAsnThrAlaAlaGluThrGluAspAspGluSerAspGlyGluAspArgGlyGlyGlyThrSerGlyValArgArgArgArgSerGlnArgIleSerGlnArgIleThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697529" } ], "type": "nucleotide" }