{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7313593", "communityStandardTitle": [ "NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679928[alleleid]", "alleleId": 679928, "preferredName": "NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692167", "RCV": [ "RCV000853513", "RCV003489941" ], "variationId": 692167 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-92470649-C-T", "id": "14-92470649-C-T", "variant": "14:92470649 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92470649C>T?assembly=hg19", "id": "chr14:g.92470649C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92004305C>T?assembly=hg38", "id": "chr14:g.92004305C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/776935608", "rs": 776935608 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92470649-C-T?dataset=gnomad_r2_1", "id": "14-92470649-C-T", "variant": "14:92470649 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92004305-C-T?dataset=gnomad_r4", "id": "14-92004305-C-T", "variant": "14:92004305 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 92004305, "referenceAllele": "C", "start": 92004304 } ], "hgvs": [ "NC_000014.9:g.92004305C>T", "CM000676.2:g.92004305C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 92470649, "referenceAllele": "C", "start": 92470648 } ], "hgvs": [ "NC_000014.8:g.92470649C>T", "CM000676.1:g.92470649C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 91540402, "referenceAllele": "C", "start": 91540401 } ], "hgvs": [ "NC_000014.7:g.91540402C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 40755, "referenceAllele": "G", "start": 40754 } ], "hgvs": [ "NG_016970.1:g.40755G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "G", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000267622.8:c.3671G>A" ], "proteinEffect": { "hgvs": "ENSP00000267622.4:p.Trp1224Ter", "hgvsWellDefined": "ENSP00000267622.4:p.Trp1224_Gln1979delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3671G>A" }, "RefSeq": { "hgvs": "NM_004239.4:c.3671G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Trp1224Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Trp1224Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "G", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000554357.5:c.2817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS370578" }, { "@id": "http://reg.genome.network/allele/PA117562", "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "G", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.3:c.3671G>A" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Trp1224Ter", "hgvsWellDefined": "NP_004230.2:p.Trp1224_Gln1979delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029413" }, { "coordinates": [ { "allele": "A", "end": 2445, "referenceAllele": "G", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268214.2:c.2345G>A" ], "proteinEffect": { "hgvs": "XP_005268271.1:p.Trp782Ter", "hgvsWellDefined": "XP_005268271.1:p.Trp782_Gln1537delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065664" }, { "coordinates": [ { "allele": "A", "end": 1982, "endIntronDirection": "+", "endIntronOffset": 3335, "referenceAllele": "G", "start": 1982, "startIntronDirection": "+", "startIntronOffset": 3334 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268215.2:c.1527+3335G>A" ], "proteinEffect": { "hgvs": "XP_005268272.1:n.1527+3335G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS065665" }, { "coordinates": [ { "allele": "A", "end": 4123, "referenceAllele": "G", "start": 4122 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_006720321.2:c.3668G>A" ], "proteinEffect": { "hgvs": "XP_006720384.1:p.Trp1223Ter", "hgvsWellDefined": "XP_006720384.1:p.Trp1223_Gln1978delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073607" }, { "coordinates": [ { "allele": "A", "end": 4126, "referenceAllele": "G", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_011537361.1:c.3671G>A" ], "proteinEffect": { "hgvs": "XP_011535663.1:p.Trp1224Ter", "hgvsWellDefined": "XP_011535663.1:p.Trp1224_Cys1638delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaArgGlyLysSerTyrValPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104326" }, { "coordinates": [ { "allele": "A", "end": 4126, "referenceAllele": "G", "start": 4125 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.1:n.4126G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS137556" }, { "@id": "http://reg.genome.network/allele/PA2827082125", "coordinates": [ { "allele": "A", "end": 4042, "referenceAllele": "G", "start": 4041 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_001321851.1:c.3668G>A" ], "proteinEffect": { "hgvs": "NP_001308780.1:p.Trp1223Ter", "hgvsWellDefined": "NP_001308780.1:p.Trp1223_Gln1978delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514537" }, { "@id": "http://reg.genome.network/allele/PA117562", "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "G", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.4:c.3671G>A" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Trp1224Ter", "hgvsWellDefined": "NP_004230.2:p.Trp1224_Gln1979delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3671G>A" }, "RefSeq": { "hgvs": "NM_004239.4:c.3671G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Trp1224Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Trp1224Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4077, "referenceAllele": "G", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021787.2:c.2966G>A" ], "proteinEffect": { "hgvs": "XP_016877276.1:p.Trp989Ter", "hgvsWellDefined": "XP_016877276.1:p.Trp989_Gln1744delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572893" }, { "coordinates": [ { "allele": "A", "end": 3917, "referenceAllele": "G", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021788.2:c.2345G>A" ], "proteinEffect": { "hgvs": "XP_016877277.1:p.Trp782Ter", "hgvsWellDefined": "XP_016877277.1:p.Trp782_Gln1537delinsLysGlnGlnValMetThrThrValGlnAsnMetGlnHisGluSerAlaGlnLeuGlnGluGluLeuHisGlnLeuGlnAlaGlnValLeuValAspSerAspAsnAsnSerLysLeuGlnValAspTyrThrGlyLeuIleGlnSerTyrGluGlnAsnGluThrLysLeuLysAsnPheGlyGlnGluLeuAlaGlnValGlnHisSerIleGlyGlnLeuCysAsnThrLysAspLeuLeuLeuGlyLysLeuAspIleIleSerProGlnLeuSerSerAlaSerLeuLeuThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572894" }, { "coordinates": [ { "allele": "A", "end": 4120, "referenceAllele": "G", "start": 4119 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_001750598.2:n.4120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597785" }, { "coordinates": [ { "allele": "A", "end": 4120, "referenceAllele": "G", "start": 4119 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.2:n.4120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS613445" } ], "type": "nucleotide" }