{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA256734", "communityStandardTitle": [ "NM_002906.4(RDX):c.463C>T (p.Gln155Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28225[alleleid]", "alleleId": 28225, "preferredName": "NM_002906.4(RDX):c.463C>T (p.Gln155Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13186", "RCV": [ "RCV000014074" ], "variationId": 13186 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.110134689G>A?assembly=hg19", "id": "chr11:g.110134689G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.110263964G>A?assembly=hg38", "id": "chr11:g.110263964G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918380", "rs": 121918380 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 110263964, "referenceAllele": "G", "start": 110263963 } ], "hgvs": [ "NC_000011.10:g.110263964G>A", "CM000673.2:g.110263964G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 110134689, "referenceAllele": "G", "start": 110134688 } ], "hgvs": [ "NC_000011.9:g.110134689G>A", "CM000673.1:g.110134689G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 109639899, "referenceAllele": "G", "start": 109639898 } ], "hgvs": [ "NC_000011.8:g.109639899G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 37749, "referenceAllele": "C", "start": 37748 } ], "hgvs": [ "NG_023044.1:g.37749C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003695" }, { "coordinates": [ { "allele": "T", "end": 37749, "referenceAllele": "C", "start": 37748 } ], "hgvs": [ "NG_023044.2:g.37749C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616259" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000642511.1:c.317C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766787" }, { "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000645495.2:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000496503.2:p.Gln155Ter", "hgvsWellDefined": "ENSP00000496503.2:p.Gln155_Met583delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768385", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645495.2:c.463C>T" }, "RefSeq": { "hgvs": "NM_002906.4:c.463C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496503.2:p.Gln155Ter" }, "RefSeq": { "hgvs": "NP_002897.1:p.Gln155Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000645527.1:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000496121.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000496121.1:p.Gln155_Cys534delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnGlyTyrLysGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768403" }, { "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000646663.1:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000494693.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000494693.1:p.Gln155_Arg590delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetAspIleSerGluAsnGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768998" }, { "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000647231.1:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000496414.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000496414.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769299" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000343115.8:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000342830.4:p.Gln155Ter", "hgvsWellDefined": "ENSP00000342830.4:p.Gln155_Met583delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261698" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000405097.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000384136.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000384136.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280246" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000528498.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000432112.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000432112.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS354027" }, { "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000528556.5:c.*451C>T" ], "proteinEffect": { "hgvs": "ENSP00000434881.1:n.*451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354076" }, { "coordinates": [ { "allele": "T", "end": 322, "endIntronDirection": "+", "endIntronOffset": 15717, "referenceAllele": "C", "start": 322, "startIntronDirection": "+", "startIntronOffset": 15716 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000528900.5:c.-83+15717C>T" ], "proteinEffect": { "hgvs": "ENSP00000433580.1:n.-83+15717C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354367" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 5774, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 5775 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000530131.5:c.97-5775C>T" ], "proteinEffect": { "hgvs": "ENSP00000432829.1:n.97-5775C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355431" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000530301.5:c.367C>T" ], "proteinEffect": { "hgvs": "ENSP00000436277.1:p.Gln123Ter", "hgvsWellDefined": "ENSP00000436277.1:p.Gln123_Met200delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355578" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000530749.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000437301.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000437301.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355953" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000532118.5:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000437140.1:p.Gln144Ter", "hgvsWellDefined": "ENSP00000437140.1:p.Gln144Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS357100" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000534683.1:c.-81C>T" ], "proteinEffect": { "hgvs": "ENSP00000431560.1:n.-81C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS359253" }, { "coordinates": [ { "allele": "T", "end": 406, "endIntronDirection": "-", "endIntronOffset": 5774, "referenceAllele": "C", "start": 406, "startIntronDirection": "-", "startIntronOffset": 5775 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "ENST00000544551.5:c.60-5775C>T" ], "proteinEffect": { "hgvs": "ENSP00000445826.1:n.60-5775C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS364633" }, { "@id": "http://reg.genome.network/allele/PA2826477100", "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260492.1:c.463C>T" ], "proteinEffect": { "hgvs": "NP_001247421.1:p.Gln155Ter", "hgvsWellDefined": "NP_001247421.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019912" }, { "@id": "http://reg.genome.network/allele/PA2826477216", "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260493.1:c.463C>T" ], "proteinEffect": { "hgvs": "NP_001247422.1:p.Gln155Ter", "hgvsWellDefined": "NP_001247422.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019913" }, { "coordinates": [ { "allele": "T", "end": 406, "endIntronDirection": "-", "endIntronOffset": 5774, "referenceAllele": "C", "start": 406, "startIntronDirection": "-", "startIntronOffset": 5775 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260494.1:c.60-5775C>T" ], "proteinEffect": { "hgvs": "NP_001247423.1:n.60-5775C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019914" }, { "coordinates": [ { "allele": "T", "end": 322, "endIntronDirection": "+", "endIntronOffset": 15717, "referenceAllele": "C", "start": 322, "startIntronDirection": "+", "startIntronOffset": 15716 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260495.1:c.-83+15717C>T" ], "proteinEffect": { "hgvs": "NP_001247424.1:n.-83+15717C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019915" }, { "@id": "http://reg.genome.network/allele/PA2826477462", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260496.1:c.367C>T" ], "proteinEffect": { "hgvs": "NP_001247425.1:p.Gln123Ter", "hgvsWellDefined": "NP_001247425.1:p.Gln123_Met200delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019916" }, { "@id": "http://reg.genome.network/allele/PA256735", "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_002906.3:c.463C>T" ], "proteinEffect": { "hgvs": "NP_002897.1:p.Gln155Ter", "hgvsWellDefined": "NP_002897.1:p.Gln155_Met583delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028192" }, { "@id": "http://reg.genome.network/allele/PA2826477100", "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260492.2:c.463C>T" ], "proteinEffect": { "hgvs": "NP_001247421.1:p.Gln155Ter", "hgvsWellDefined": "NP_001247421.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680856" }, { "@id": "http://reg.genome.network/allele/PA256735", "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_002906.4:c.463C>T" ], "proteinEffect": { "hgvs": "NP_002897.1:p.Gln155Ter", "hgvsWellDefined": "NP_002897.1:p.Gln155_Met583delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695680", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645495.2:c.463C>T" }, "RefSeq": { "hgvs": "NM_002906.4:c.463C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496503.2:p.Gln155Ter" }, "RefSeq": { "hgvs": "NP_002897.1:p.Gln155Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826477216", "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260493.2:c.463C>T" ], "proteinEffect": { "hgvs": "NP_001247422.1:p.Gln155Ter", "hgvsWellDefined": "NP_001247422.1:p.Gln155_Met604delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnTrpGluGluArgIleGlnAsnTrpHisGluGluHisArgGlyMetLeuArgGluAspSerMetMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheGluIleLysAsnLysLysGlyThrGluLeuTrpLeuGlyValAspAlaLeuGlyLeuAsnIleTyrGluHisAspAspLysLeuThrProLysIleGlyPheProTrpSerGluIleArgAsnIleSerPheAsnAspLysLysPheValIleLysProIleAspLysLysAlaProAspPheValPheTyrAlaProArgLeuArgIleAsnLysArgIleLeuAlaLeuCysMetGlyAsnHisGluLeuTyrMetArgArgArgLysProAspThrIleGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysHisGlnLysGlnLeuGluArgAlaGlnLeuGluAsnGluLysLysLysArgGluIleAlaGluLysGluLysGluArgIleGluArgGluLysGluGluLeuMetGluArgLeuLysGlnIleGluGluGlnThrIleLysAlaGlnLysGluLeuGluGluGlnThrArgLysAlaLeuGluLeuAspGlnGluArgLysArgAlaLysGluGluAlaGluArgLeuGluLysGluArgArgAlaAlaGluGluAlaLysSerAlaIleAlaLysGlnAlaAlaAspGlnMetLysAsnGlnGluGlnLeuAlaAlaGluLeuAlaGluPheThrAlaLysIleAlaLeuLeuGluGluAlaLysLysLysLysGluGluGluAlaThrGluTrpGlnHisLysAlaPheAlaAlaGlnGluAspLeuGluLysThrLysGluGluLeuLysThrValMetSerAlaProProProProProProProProValIleProProThrGluAsnGluHisAspGluHisAspGluAsnAsnAlaGluAlaSerAlaGluLeuSerAsnGluGlyValMetAsnHisArgSerGluGluGluArgValThrGluThrGlnLysAsnGluArgValLysLysGlnLeuGlnAlaLeuSerSerGluLeuAlaGlnAlaArgAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714996" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 5774, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 5775 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260494.2:c.60-5775C>T" ], "proteinEffect": { "hgvs": "NP_001247423.1:n.60-5775C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714997" }, { "coordinates": [ { "allele": "T", "end": 224, "endIntronDirection": "+", "endIntronOffset": 15717, "referenceAllele": "C", "start": 224, "startIntronDirection": "+", "startIntronOffset": 15716 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260495.2:c.-83+15717C>T" ], "proteinEffect": { "hgvs": "NP_001247424.1:n.-83+15717C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714998" }, { "@id": "http://reg.genome.network/allele/PA2826477462", "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN009944", "geneNCBI_id": 5962, "geneSymbol": "RDX", "hgvs": [ "NM_001260496.2:c.367C>T" ], "proteinEffect": { "hgvs": "NP_001247425.1:p.Gln123Ter", "hgvsWellDefined": "NP_001247425.1:p.Gln123_Met200delinsArgValLeuGluGlnHisLysLeuThrLysGluGlnAspGluThrLysLysThrGlnAsnAspValLeuHisAlaGluAsnValLysAlaGlyArgAspLysTyrLysThrLeuArgGlnIleArgGlnGlyAsnThrLysGlnArgIleAspGluPheGluAlaMetTrpGlyProLysLeuTyrAlaLeuPheGlnMetArgSerCysGlnSerSerIleLysGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714999" } ], "type": "nucleotide" }