{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390652357", "communityStandardTitle": [ "NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679929[alleleid]", "alleleId": 679929, "preferredName": "NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692166", "RCV": [ "RCV000853512" ], "variationId": 692166 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92470842G>A?assembly=hg19", "id": "chr14:g.92470842G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92004498G>A?assembly=hg38", "id": "chr14:g.92004498G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1595387492", "rs": 1595387492 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 92004498, "referenceAllele": "G", "start": 92004497 } ], "hgvs": [ "NC_000014.9:g.92004498G>A", "CM000676.2:g.92004498G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 92470842, "referenceAllele": "G", "start": 92470841 } ], "hgvs": [ "NC_000014.8:g.92470842G>A", "CM000676.1:g.92470842G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 91540595, "referenceAllele": "G", "start": 91540594 } ], "hgvs": [ "NC_000014.7:g.91540595G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 40562, "referenceAllele": "C", "start": 40561 } ], "hgvs": [ "NG_016970.1:g.40562C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000267622.8:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000267622.4:p.Gln1160Ter", "hgvsWellDefined": "ENSP00000267622.4:p.Gln1160_Gln1979delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3478C>T" }, "RefSeq": { "hgvs": "NM_004239.4:c.3478C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Gln1160Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Gln1160Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000554357.5:c.2624C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370578" }, { "@id": "http://reg.genome.network/allele/PA916008023", "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.3:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Gln1160Ter", "hgvsWellDefined": "NP_004230.2:p.Gln1160_Gln1979delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029413" }, { "coordinates": [ { "allele": "T", "end": 2252, "referenceAllele": "C", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268214.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_005268271.1:p.Gln718Ter", "hgvsWellDefined": "XP_005268271.1:p.Gln718_Gln1537delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065664" }, { "coordinates": [ { "allele": "T", "end": 1982, "endIntronDirection": "+", "endIntronOffset": 3142, "referenceAllele": "C", "start": 1982, "startIntronDirection": "+", "startIntronOffset": 3141 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268215.2:c.1527+3142C>T" ], "proteinEffect": { "hgvs": "XP_005268272.1:n.1527+3142C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS065665" }, { "coordinates": [ { "allele": "T", "end": 3930, "referenceAllele": "C", "start": 3929 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_006720321.2:c.3475C>T" ], "proteinEffect": { "hgvs": "XP_006720384.1:p.Gln1159Ter", "hgvsWellDefined": "XP_006720384.1:p.Gln1159_Gln1978delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073607" }, { "coordinates": [ { "allele": "T", "end": 3933, "referenceAllele": "C", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_011537361.1:c.3478C>T" ], "proteinEffect": { "hgvs": "XP_011535663.1:p.Gln1160Ter", "hgvsWellDefined": "XP_011535663.1:p.Gln1160_Cys1638delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaArgGlyLysSerTyrValPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104326" }, { "coordinates": [ { "allele": "T", "end": 3933, "referenceAllele": "C", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.1:n.3933C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS137556" }, { "@id": "http://reg.genome.network/allele/PA2827082095", "coordinates": [ { "allele": "T", "end": 3849, "referenceAllele": "C", "start": 3848 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_001321851.1:c.3475C>T" ], "proteinEffect": { "hgvs": "NP_001308780.1:p.Gln1159Ter", "hgvsWellDefined": "NP_001308780.1:p.Gln1159_Gln1978delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514537" }, { "@id": "http://reg.genome.network/allele/PA916008023", "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.4:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Gln1160Ter", "hgvsWellDefined": "NP_004230.2:p.Gln1160_Gln1979delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3478C>T" }, "RefSeq": { "hgvs": "NM_004239.4:c.3478C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Gln1160Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Gln1160Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3884, "referenceAllele": "C", "start": 3883 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021787.2:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_016877276.1:p.Gln925Ter", "hgvsWellDefined": "XP_016877276.1:p.Gln925_Gln1744delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572893" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021788.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_016877277.1:p.Gln718Ter", "hgvsWellDefined": "XP_016877277.1:p.Gln718_Gln1537delinsAsnLeuSerArgIleIleArgGluLysAspIleGluIleAspAlaLeuSerGlnLysCysGlnThrLeuLeuAlaValLeuGlnThrSerSerThrGlyAsnGluAlaGlyGlyValAsnSerAsnGlnPheGluGluLeuLeuGlnGluArgAspLysLeuLysGlnGlnValLysLysMetGluGluTrpLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572894" }, { "coordinates": [ { "allele": "T", "end": 3927, "referenceAllele": "C", "start": 3926 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_001750598.2:n.3927C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597785" }, { "coordinates": [ { "allele": "T", "end": 3927, "referenceAllele": "C", "start": 3926 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.2:n.3927C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS613445" } ], "type": "nucleotide" }