{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA227988", "communityStandardTitle": [ "NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105756[alleleid]", "alleleId": 105756, "preferredName": "NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99867", "RCV": [ "RCV000086305", "RCV003474690", "RCV003764799" ], "variationId": 99867 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197390166C>G?assembly=hg19", "id": "chr1:g.197390166C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197421036C>G?assembly=hg38", "id": "chr1:g.197421036C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/62645746", "rs": 62645746 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197421036, "referenceAllele": "C", "start": 197421035 } ], "hgvs": [ "NC_000001.11:g.197421036C>G", "CM000663.2:g.197421036C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197390166, "referenceAllele": "C", "start": 197390165 } ], "hgvs": [ "NC_000001.10:g.197390166C>G", "CM000663.1:g.197390166C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 195656789, "referenceAllele": "C", "start": 195656788 } ], "hgvs": [ "NC_000001.9:g.195656789C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 157759, "referenceAllele": "C", "start": 157758 } ], "hgvs": [ "NG_008483.1:g.157759C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "G", "end": 224575, "referenceAllele": "C", "start": 224574 } ], "hgvs": [ "NG_008483.2:g.224575C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Ser403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1208C>G" }, "RefSeq": { "hgvs": "NM_201253.3:c.1208C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Ser403Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Ser403Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Ser403Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Ser403_Tyr1376delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "G", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.89C>G" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Ser30Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Ser30_Tyr1003delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "G", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.-650C>G" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:n.-650C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "G", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.872C>G" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Ser291Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "G", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Ser403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "G", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000476483.1:n.168C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS317517" }, { "coordinates": [ { "allele": "G", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Ser403Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Ser403_Tyr1376delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.1001C>G" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Ser334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:p.Ser403Ter", "hgvsWellDefined": "ENSP00000438091.1:p.Ser403_Ile870delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "coordinates": [ { "allele": "G", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.872C>G" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Ser291Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "coordinates": [ { "allele": "G", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.1001C>G" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Ser334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "@id": "http://reg.genome.network/allele/PA2826447803", "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Ser403Ter", "hgvsWellDefined": "NP_001244895.1:p.Ser403_Ile870delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Ser403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.1417C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.1417C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.1208C>G" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Ser403Ter", "hgvsWellDefined": "XP_011507667.1:p.Ser403_Asn1349delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.1208C>G" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Ser403Ter", "hgvsWellDefined": "XP_011507668.1:p.Ser403_Tyr1336delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.1208C>G" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Ser403Ter", "hgvsWellDefined": "XP_011507669.1:p.Ser403_Thr1297delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluCysTrpGlnMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "G", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.626C>G" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Ser209Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "G", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.-350C>G" ], "proteinEffect": { "hgvs": "XP_011507671.1:n.-350C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.1208C>G" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Ser403Ter", "hgvsWellDefined": "XP_011507667.1:p.Ser403_Asn1349delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGluTyrValAlaGlyArgPheGlyGlnAspAspSerThrGlyTyrValIlePheThrLeuAspGluSerTyrGlyAspThrIleSerLeuSerMetPheValArgThrLeuGlnProSerGlyLeuLeuLeuAlaLeuGluAsnSerThrTyrGlnTyrIleArgValTrpLeuGluArgGlyArgLeuAlaMetLeuThrProAsnSerProLysLeuValValLysPheValLeuAsnAspGlyAsnValHisLeuIleSerLeuLysIleLysProTyrLysIleGluLeuTyrGlnSerSerGlnAsnLeuGlyPheIleSerAlaSerThrTrpLysIleGluLysGlyAspValIleTyrIleGlyGlyLeuProAspLysGlnGluThrGluLeuAsnGlyGlyPhePheLysGlyCysIleGlnAspValArgLeuAsnAsnGlnAsnLeuGluPhePheProAsnProThrAsnAsnAlaSerLeuAsnProValLeuValAsnValThrGlnGlyCysAlaGlyAspAsnSerCysLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "G", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.-350C>G" ], "proteinEffect": { "hgvs": "XP_011507671.1:n.-350C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "G", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.365C>G" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Ser122Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.1208C>G" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Ser403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Ser403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1208C>G" }, "RefSeq": { "hgvs": "NM_201253.3:c.1208C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Ser403Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Ser403Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.872C>G" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Ser291Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "coordinates": [ { "allele": "G", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.1001C>G" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Ser334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.1369C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.1369C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "@id": "http://reg.genome.network/allele/PA2826447803", "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Ser403Ter", "hgvsWellDefined": "NP_001244895.1:p.Ser403_Ile870delinsAsnProCysGlnAsnGlyGlyThrCysGluAsnLeuProGlyAsnTyrThrCysHisCysProPheAspAsnLeuSerArgThrPheTyrGlyGlyArgAspCysSerAspIleLeuLeuGlyCysThrHisGlnGlnCysLeuAsnAsnGlyThrCysIleProHisPheGlnAspGlyGlnHisGlyPheSerCysLeuCysProSerGlyTyrThrGlySerLeuCysGluIleAlaThrThrLeuSerPheGluGlyAspGlyPheLeuTrpValLysSerGlySerValThrThrLysGlySerValCysAsnIleAlaLeuArgPheGlnThrValGlnProMetAlaLeuLeuLeuPheArgSerAsnArgAspValPheValLysLeuGluLeuLeuSerGlyTyrIleHisLeuSerIleGlnValAsnAsnGlnSerLysValLeuLeuPheIleSerHisAsnThrSerAspGlyGluTrpHisPheValGluValIlePheAlaGluAlaValThrLeuThrLeuIleAspAspSerCysLysGluLysCysIleAlaLysAlaProThrProLeuGluSerAspGlnSerIleCysAlaPheGlnAsnSerPheLeuGlyGlyLeuProValGlyMetThrSerAsnGlyValAlaLeuLeuAsnPheTyrAsnMetProSerThrProSerPheValGlyCysLeuGlnAspIleLysIleAspTrpAsnHisIleThrLeuGluAsnIleSerSerGlySerSerLeuAsnValLysAlaGlyCysValArgLysAspTrpCysGluSerGlnProCysGlnSerArgGlyArgCysIleAsnLeuTrpLeuSerTyrGlnCysAspCysHisArgProTyrGluGlyProAsnCysLeuArgGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }