{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7313545", "communityStandardTitle": [ "NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679927[alleleid]", "alleleId": 679927, "preferredName": "NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692172", "RCV": [ "RCV000853519", "RCV001597222" ], "variationId": 692172 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-92470358-A-T", "id": "14-92470358-A-T", "variant": "14:92470358 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92470358A>T?assembly=hg19", "id": "chr14:g.92470358A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.92004014A>T?assembly=hg38", "id": "chr14:g.92004014A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/745372938", "rs": 745372938 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92470358-A-T?dataset=gnomad_r2_1", "id": "14-92470358-A-T", "variant": "14:92470358 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92004014-A-T?dataset=gnomad_r3", "id": "14-92004014-A-T", "variant": "14:92004014 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-92004014-A-T?dataset=gnomad_r4", "id": "14-92004014-A-T", "variant": "14:92004014 A / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 92004014, "referenceAllele": "A", "start": 92004013 } ], "hgvs": [ "NC_000014.9:g.92004014A>T", "CM000676.2:g.92004014A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 92470358, "referenceAllele": "A", "start": 92470357 } ], "hgvs": [ "NC_000014.8:g.92470358A>T", "CM000676.1:g.92470358A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 91540111, "referenceAllele": "A", "start": 91540110 } ], "hgvs": [ "NC_000014.7:g.91540111A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 41046, "referenceAllele": "T", "start": 41045 } ], "hgvs": [ "NG_016970.1:g.41046T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4336, "referenceAllele": "T", "start": 4335 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000267622.8:c.3962T>A" ], "proteinEffect": { "hgvs": "ENSP00000267622.4:p.Leu1321Ter", "hgvsWellDefined": "ENSP00000267622.4:p.Leu1322_Gln1979delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3962T>A" }, "RefSeq": { "hgvs": "NM_004239.4:c.3962T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Leu1321Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Leu1321Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3108, "referenceAllele": "T", "start": 3107 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "ENST00000554357.5:c.3108T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS370578" }, { "@id": "http://reg.genome.network/allele/PA916008044", "coordinates": [ { "allele": "A", "end": 4336, "referenceAllele": "T", "start": 4335 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.3:c.3962T>A" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Leu1321Ter", "hgvsWellDefined": "NP_004230.2:p.Leu1322_Gln1979delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029413" }, { "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "T", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268214.2:c.2636T>A" ], "proteinEffect": { "hgvs": "XP_005268271.1:p.Leu879Ter", "hgvsWellDefined": "XP_005268271.1:p.Leu880_Gln1537delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065664" }, { "coordinates": [ { "allele": "A", "end": 1982, "endIntronDirection": "+", "endIntronOffset": 3626, "referenceAllele": "T", "start": 1982, "startIntronDirection": "+", "startIntronOffset": 3625 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_005268215.2:c.1527+3626T>A" ], "proteinEffect": { "hgvs": "XP_005268272.1:n.1527+3626T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS065665" }, { "coordinates": [ { "allele": "A", "end": 4414, "referenceAllele": "T", "start": 4413 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_006720321.2:c.3959T>A" ], "proteinEffect": { "hgvs": "XP_006720384.1:p.Leu1320Ter", "hgvsWellDefined": "XP_006720384.1:p.Leu1321_Gln1978delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073607" }, { "coordinates": [ { "allele": "A", "end": 4417, "referenceAllele": "T", "start": 4416 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_011537361.1:c.3962T>A" ], "proteinEffect": { "hgvs": "XP_011535663.1:p.Leu1321Ter", "hgvsWellDefined": "XP_011535663.1:p.Leu1322_Cys1638delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaArgGlyLysSerTyrValPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104326" }, { "coordinates": [ { "allele": "A", "end": 4417, "referenceAllele": "T", "start": 4416 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.1:n.4417T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS137556" }, { "@id": "http://reg.genome.network/allele/PA2827082178", "coordinates": [ { "allele": "A", "end": 4333, "referenceAllele": "T", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_001321851.1:c.3959T>A" ], "proteinEffect": { "hgvs": "NP_001308780.1:p.Leu1320Ter", "hgvsWellDefined": "NP_001308780.1:p.Leu1321_Gln1978delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514537" }, { "@id": "http://reg.genome.network/allele/PA916008044", "coordinates": [ { "allele": "A", "end": 4336, "referenceAllele": "T", "start": 4335 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "NM_004239.4:c.3962T>A" ], "proteinEffect": { "hgvs": "NP_004230.2:p.Leu1321Ter", "hgvsWellDefined": "NP_004230.2:p.Leu1322_Gln1979delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267622.8:c.3962T>A" }, "RefSeq": { "hgvs": "NM_004239.4:c.3962T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267622.4:p.Leu1321Ter" }, "RefSeq": { "hgvs": "NP_004230.2:p.Leu1321Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4368, "referenceAllele": "T", "start": 4367 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021787.2:c.3257T>A" ], "proteinEffect": { "hgvs": "XP_016877276.1:p.Leu1086Ter", "hgvsWellDefined": "XP_016877276.1:p.Leu1087_Gln1744delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572893" }, { "coordinates": [ { "allele": "A", "end": 4208, "referenceAllele": "T", "start": 4207 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XM_017021788.2:c.2636T>A" ], "proteinEffect": { "hgvs": "XP_016877277.1:p.Leu879Ter", "hgvsWellDefined": "XP_016877277.1:p.Leu880_Gln1537delinsThrProGlnSerAlaGluCysLeuArgAlaSerLysSerGluValLeuSerGluSerSerGluLeuLeuGlnGlnGluLeuGluGluLeuArgLysSerLeuGlnGluLysAspAlaThrIleArgThrLeuGlnGluAsnAsnHisArgLeuSerAspSerIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572894" }, { "coordinates": [ { "allele": "A", "end": 4411, "referenceAllele": "T", "start": 4410 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_001750598.2:n.4411T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597785" }, { "coordinates": [ { "allele": "A", "end": 4411, "referenceAllele": "T", "start": 4410 } ], "gene": "http://reg.genome.network/gene/GN012305", "geneNCBI_id": 9321, "geneSymbol": "TRIP11", "hgvs": [ "XR_943560.2:n.4411T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS613445" } ], "type": "nucleotide" }