{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7313688", "communityStandardTitle": [ "NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1371577", "active": true, "id": "COSM1371577" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1108914[alleleid]", "alleleId": 1108914, "preferredName": "NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1120079", "RCV": [ "RCV001449731" ], "variationId": 1120079 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-92471238-G-A", "id": "14-92471238-G-A", "variant": "14:92471238 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92471238G>A?assembly=hg19", "id": "chr14:g.92471238G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92004894G>A?assembly=hg38", "id": "chr14:g.92004894G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149562813", "rs": 149562813 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92471238-G-A?dataset=gnomad_r2_1", "id": "14-92471238-G-A", "variant": "14:92471238 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92004894-G-A?dataset=gnomad_r3", "id": "14-92004894-G-A", "variant": "14:92004894 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92004894-G-A?dataset=gnomad_r4", "id": "14-92004894-G-A", "variant": "14:92004894 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 92004894, "referenceAllele": "G", "start": 92004893 } ], "hgvs": [ "NC_000014.9:g.92004894G>A", "CM000676.2:g.92004894G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 92471238, "referenceAllele": "G", "start": 92471237 } ], "hgvs": [ "NC_000014.8:g.92471238G>A", "CM000676.1:g.92471238G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 91540991, "referenceAllele": "G", "start": 91540990 } ], "hgvs": [ "NC_000014.7:g.91540991G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 40166, "referenceAllele": "C", "start": 40165 } ], "hgvs": [ "NG_016970.1:g.40166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3456, "referenceAllele": "C", "start": 3455 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000267622.8:c.3082C>T" ], "proteinEffect": { "hgvs": "ENSP00000267622.4:p.Arg1028Ter", "hgvsWellDefined": "ENSP00000267622.4:p.Arg1028_Gln1979delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3082C>T" }, "RefSeq": { "hgvs": "NM_004239.4:c.3082C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Arg1028Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Arg1028Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000554357.5:c.2228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370578" }, { "@id": "http://reg.genome.network/allele/PA2499266203", "coordinates": [ { "allele": "T", "end": 3456, "referenceAllele": "C", "start": 3455 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.3:c.3082C>T" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Arg1028Ter", "hgvsWellDefined": "NP_004230.2:p.Arg1028_Gln1979delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029413" }, { "coordinates": [ { "allele": "T", "end": 1856, "referenceAllele": "C", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268214.2:c.1756C>T" ], "proteinEffect": { "hgvs": "XP_005268271.1:p.Arg586Ter", "hgvsWellDefined": "XP_005268271.1:p.Arg586_Gln1537delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065664" }, { "coordinates": [ { "allele": "T", "end": 1982, "endIntronDirection": "+", "endIntronOffset": 2746, "referenceAllele": "C", "start": 1982, "startIntronDirection": "+", "startIntronOffset": 2745 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268215.2:c.1527+2746C>T" ], "proteinEffect": { "hgvs": "XP_005268272.1:n.1527+2746C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS065665" }, { "coordinates": [ { "allele": "T", "end": 3534, "referenceAllele": "C", "start": 3533 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_006720321.2:c.3079C>T" ], "proteinEffect": { "hgvs": "XP_006720384.1:p.Arg1027Ter", "hgvsWellDefined": "XP_006720384.1:p.Arg1027_Gln1978delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073607" }, { "coordinates": [ { "allele": "T", "end": 3537, "referenceAllele": "C", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_011537361.1:c.3082C>T" ], "proteinEffect": { "hgvs": "XP_011535663.1:p.Arg1028Ter", "hgvsWellDefined": "XP_011535663.1:p.Arg1028_Cys1638delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaArgGlyLysSerTyrValPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104326" }, { "coordinates": [ { "allele": "T", "end": 3537, "referenceAllele": "C", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.1:n.3537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS137556" }, { "@id": "http://reg.genome.network/allele/PA2827082036", "coordinates": [ { "allele": "T", "end": 3453, "referenceAllele": "C", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_001321851.1:c.3079C>T" ], "proteinEffect": { "hgvs": "NP_001308780.1:p.Arg1027Ter", "hgvsWellDefined": "NP_001308780.1:p.Arg1027_Gln1978delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514537" }, { "@id": "http://reg.genome.network/allele/PA2499266203", "coordinates": [ { "allele": "T", "end": 3456, "referenceAllele": "C", "start": 3455 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.4:c.3082C>T" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Arg1028Ter", "hgvsWellDefined": "NP_004230.2:p.Arg1028_Gln1979delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3082C>T" }, "RefSeq": { "hgvs": "NM_004239.4:c.3082C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Arg1028Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Arg1028Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3488, "referenceAllele": "C", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021787.2:c.2377C>T" ], "proteinEffect": { "hgvs": "XP_016877276.1:p.Arg793Ter", "hgvsWellDefined": "XP_016877276.1:p.Arg793_Gln1744delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572893" }, { "coordinates": [ { "allele": "T", "end": 3328, "referenceAllele": "C", "start": 3327 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021788.2:c.1756C>T" ], "proteinEffect": { "hgvs": "XP_016877277.1:p.Arg586Ter", "hgvsWellDefined": "XP_016877277.1:p.Arg586_Gln1537delinsGluLeuGluIleLysLeuLeuAsnGluLysAsnIleSerLeuThrLysGlnIleAspGlnLeuSerLysAspGluValGlyLysLeuThrGlnIleIleGlnGlnLysAspLeuGluIleGlnAlaLeuHisAlaArgIleSerSerThrSerHisThrGlnAspValValTyrLeuGlnGlnGlnLeuGlnAlaTyrAlaMetGluArgGluLysValPheAlaValLeuAsnGluLysThrArgGluAsnSerHisLeuLysThrGluTyrHisLysMetMetAspIleValAlaAlaLysGluAlaAlaLeuIleLysLeuGlnAspGluAsnLysLysLeuSerThrArgPheGluSerSerGlyGlnAspMetPheArgGluThrIleGlnAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572894" }, { "coordinates": [ { "allele": "T", "end": 3531, "referenceAllele": "C", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_001750598.2:n.3531C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597785" }, { "coordinates": [ { "allele": "T", "end": 3531, "referenceAllele": "C", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.2:n.3531C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS613445" } ], "type": "nucleotide" }