{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA35893184", "communityStandardTitle": [ "NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431560[alleleid]", "alleleId": 431560, "preferredName": "NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438069", "RCV": [ "RCV000505025", "RCV001390794", "RCV001074835", "RCV003476197", "RCV004527614" ], "variationId": 438069 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197390141G>T?assembly=hg19", "id": "chr1:g.197390141G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197421011G>T?assembly=hg38", "id": "chr1:g.197421011G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369775002", "rs": 369775002 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197390141-G-T?dataset=gnomad_r2_1", "id": "1-197390141-G-T", "variant": "1:197390141 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197421011-G-T?dataset=gnomad_r3", "id": "1-197421011-G-T", "variant": "1:197421011 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197421011-G-T?dataset=gnomad_r4", "id": "1-197421011-G-T", "variant": "1:197421011 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197421011, "referenceAllele": "G", "start": 197421010 } ], "hgvs": [ "NC_000001.11:g.197421011G>T", "CM000663.2:g.197421011G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197390141, "referenceAllele": "G", "start": 197390140 } ], "hgvs": [ "NC_000001.10:g.197390141G>T", "CM000663.1:g.197390141G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 195656764, "referenceAllele": "G", "start": 195656763 } ], "hgvs": [ "NC_000001.9:g.195656764G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 157734, "referenceAllele": "G", "start": 157733 } ], "hgvs": [ "NG_008483.1:g.157734G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "T", "end": 224550, "referenceAllele": "G", "start": 224549 } ], "hgvs": [ "NG_008483.2:g.224550G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.1183G>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Glu395Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1183G>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.1183G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Glu395Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Glu395Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.1183G>T" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Glu395Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Glu396_Tyr1376delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.64G>T" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Glu22Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Glu23_Tyr1003delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.-675G>T" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:n.-675G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "G", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.847G>T" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Glu283Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.1183G>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Glu395Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000476483.1:n.143G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317517" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.1183G>T" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Glu395Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Glu396_Tyr1376delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.976G>T" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Glu326Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.1183G>T" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:p.Glu395Ter", "hgvsWellDefined": "ENSP00000438091.1:p.Glu396_Ile870delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.847G>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Glu283Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "G", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.976G>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Glu326Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "@id": "http://reg.genome.network/allele/PA2826447792", "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, 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"NP_001244895.1:p.Glu396_Ile870delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.1183G>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Glu395Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.1392G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.1392G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.1183G>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Glu395Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.1183G>T" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Glu395Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.1183G>T" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Glu395Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.601G>T" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Glu201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.-375G>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:n.-375G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.1183G>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Glu395Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "XP_016856341.1:p.Glu395Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.1183G>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Glu395Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1183G>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.1183G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Glu395Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Glu395Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.847G>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Glu283Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.976G>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Glu326Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.1344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.1344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "@id": "http://reg.genome.network/allele/PA2826447792", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.1183G>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Glu395Ter", "hgvsWellDefined": "NP_001244895.1:p.Glu396_Ile870delinsAspValAsnGluCysSerSerAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }