{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1312157", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622990[alleleid]", "alleleId": 622990, "preferredName": "NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635156", "RCV": [ "RCV000786008", "RCV001250630", "RCV003141768" ], "variationId": 635156 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-197397128-C-A", "id": "1-197397128-C-A", "variant": "1:197397128 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197397128C>A?assembly=hg19", "id": "chr1:g.197397128C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197427998C>A?assembly=hg38", "id": "chr1:g.197427998C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/759662695", "rs": 759662695 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197427998-C-A?dataset=gnomad_r4", "id": "1-197427998-C-A", "variant": "1:197427998 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 197427998, "referenceAllele": "C", "start": 197427997 } ], "hgvs": [ "NC_000001.11:g.197427998C>A", "CM000663.2:g.197427998C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 197397128, "referenceAllele": "C", "start": 197397127 } ], "hgvs": [ "NC_000001.10:g.197397128C>A", "CM000663.1:g.197397128C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 195663751, "referenceAllele": "C", "start": 195663750 } ], "hgvs": [ "NC_000001.9:g.195663751C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 164721, "referenceAllele": "C", "start": 164720 } ], "hgvs": [ "NG_008483.1:g.164721C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "A", "end": 231537, "referenceAllele": "C", "start": 231536 } ], "hgvs": [ "NG_008483.2:g.231537C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "C", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2673C>A" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Cys891Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Cys891_Ile1406delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2673C>A" }, "RefSeq": { "hgvs": "NM_201253.3:c.2673C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Cys891Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Cys891Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2808, "referenceAllele": "C", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2673C>A" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Cys891Ter", "hgvsWellDefined": "ENSP00000491102.1:p.Cys891_Tyr1376delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1554C>A" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Cys518Ter", "hgvsWellDefined": "ENSP00000505267.1:p.Cys518_Tyr1003delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.816C>A" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Cys272Ter", "hgvsWellDefined": "ENSP00000356367.1:p.Cys272_Trp674delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "A", "end": 2337, "referenceAllele": "C", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.2337C>A" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Cys779Ter", "hgvsWellDefined": "ENSP00000356369.2:p.Cys779_Ile1294delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "A", "end": 2808, "referenceAllele": "C", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2673C>A" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Cys891Ter", "hgvsWellDefined": "ENSP00000356370.3:p.Cys891_Ile1406delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "A", "end": 2808, "referenceAllele": "C", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2673C>A" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Cys891Ter", "hgvsWellDefined": "ENSP00000433932.1:p.Cys891_Tyr1376delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspValSerSerLeuSerPheTyrValSerLeuLeuPheTrpGlnAsnLeuPheGlnLeuLeuSerTyrLeuIleLeuArgMetAsnAspGluProValValGluTrpGlyGluGlnGluAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "C", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.2466C>A" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Cys822Ter", "hgvsWellDefined": "ENSP00000438786.1:p.Cys822_Ile1382delinsLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "A", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 6042, "referenceAllele": "C", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 6041 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2128+6042C>A" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2128+6042C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826192365", "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "C", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.2337C>A" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Cys779Ter", "hgvsWellDefined": "NP_001180569.1:p.Cys779_Ile1294delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446904", "coordinates": [ { "allele": "A", "end": 2805, "referenceAllele": "C", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.2466C>A" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Cys822Ter", "hgvsWellDefined": "NP_001244894.1:p.Cys822_Ile1382delinsLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "A", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 6042, "referenceAllele": "C", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 6041 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2128+6042C>A" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+6042C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA913203220", "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "C", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2673C>A" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Cys891Ter", "hgvsWellDefined": "NP_957705.1:p.Cys891_Ile1406delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "A", "end": 2674, "referenceAllele": "C", "start": 2673 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2674C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "C", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.2882C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2673C>A" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Cys891Ter", "hgvsWellDefined": "XP_011507667.1:p.Cys891_Asn1349delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2673C>A" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Cys891Ter", "hgvsWellDefined": "XP_011507668.1:p.Cys891_Tyr1336delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2673C>A" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Cys891Ter", "hgvsWellDefined": "XP_011507669.1:p.Cys891_Thr1297delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluCysTrpGlnMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "A", "end": 2256, "referenceAllele": "C", "start": 2255 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.2091C>A" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Cys697Ter", "hgvsWellDefined": "XP_011507670.1:p.Cys697_Ile1212delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.1116C>A" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Cys372Ter", "hgvsWellDefined": "XP_011507671.1:p.Cys372_Ile887delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2673C>A" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Cys891Ter", "hgvsWellDefined": "XP_011507667.1:p.Cys891_Asn1349delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspIleSerGlyGluGluLysGlyAsnLysAsnHisLeuAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "C", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.1116C>A" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Cys372Ter", "hgvsWellDefined": "XP_011507671.1:p.Cys372_Ile887delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "A", "end": 2574, "referenceAllele": "C", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.1830C>A" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Cys610Ter", "hgvsWellDefined": "XP_016856340.1:p.Cys610_Ile1125delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.2673C>A" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Cys891Ter", "hgvsWellDefined": "XP_016856341.1:p.Cys891_Ile1451delinsLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA913203220", "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "C", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2673C>A" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Cys891Ter", "hgvsWellDefined": "NP_957705.1:p.Cys891_Ile1406delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2673C>A" }, "RefSeq": { "hgvs": "NM_201253.3:c.2673C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Cys891Ter" }, "RefSeq": { "hgvs": "NP_957705.1:p.Cys891Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826192365", "coordinates": [ { "allele": "A", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.2337C>A" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Cys779Ter", "hgvsWellDefined": "NP_001180569.1:p.Cys779_Ile1294delinsLysSerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446904", "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "C", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.2466C>A" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Cys822Ter", "hgvsWellDefined": "NP_001244894.1:p.Cys822_Ile1382delinsLysArgGlnThrAsnValGlyArgAlaLeuThrGluLeuGlySerArgGlyProLysTyrGlnValSerLeuPheArgPheCysValGlySerTrpAlaThrGlyAsnThrPhePheLeuSerSerIleLysProGlySerAsnProCysHisAsnGlyGlyValCysHisSerArgTrpAspAspPheSerCysSerCysProAlaLeuThrSerGlyLysAlaCysGluGluValGlnTrpCysGlyPheSerProCysProHisGlyAlaGlnCysGlnProValLeuGlnGlyPheGluCysIleAlaAsnAlaValPheAsnGlyGlnSerGlyGlnIleLeuPheArgSerAsnGlyAsnIleThrArgGluLeuThrAsnIleThrPheGlyPheArgThrArgAspAlaAsnValIleIleLeuHisAlaGluLysGluProGluPheLeuAsnIleSerIleGlnAspSerArgLeuPhePheGlnLeuGlnSerGlyAsnSerPheTyrMetLeuSerLeuThrSerLeuGlnSerValAsnAspGlyThrTrpHisGluValThrLeuSerMetThrAspProLeuSerGlnThrSerArgTrpGlnMetGluValAspAsnGluThrProPheValThrSerThrIleAlaThrGlySerLeuAsnPheLeuLysAspAsnThrAspIleTyrValGlyAspArgAlaIleAspAsnIleLysGlyLeuGlnGlyCysLeuSerThrIleGluIleGlyGlyIleTyrLeuSerTyrPheGluAsnValHisGlyPheIleAsnLysProGlnGluGluGlnPheLeuLysIleSerThrAsnSerValValThrGlyCysLeuGlnLeuAsnValCysAsnSerAsnProCysLeuHisGlyGlyAsnCysGluAspIleTyrSerSerTyrHisCysSerCysProLeuGlyTrpSerGlyLysHisCysGluLeuAsnIleAspGluCysPheSerAsnProCysIleHisGlyAsnCysSerAspArgValAlaAlaTyrHisCysThrCysGluProGlyTyrThrGlyValAsnCysGluValAspIleAspAsnCysGlnSerHisGlnCysAlaAsnGlyAlaThrCysIleSerHisThrAsnGlyTyrSerCysLeuCysPheGlyAsnPheThrGlyLysPheCysArgGlnSerArgLeuProSerThrValCysGlyAsnGluLysThrAsnLeuThrCysTyrAsnGlyGlyAsnCysThrGluPheGlnThrGluLeuLysCysMetCysArgProGlyPheThrGlyGluTrpCysGluLysAspIleAspGluCysAlaSerAspProCysValAsnGlyGlyLeuCysGlnAspLeuLeuAsnLysPheGlnCysLeuCysAspValAlaPheAlaGlyGluArgCysGluValAspLeuAlaAspAspLeuIleSerAspIlePheThrThrIleGlySerValThrValAlaLeuLeuLeuIleLeuLeuLeuAlaIleValAlaSerValValThrSerAsnLysArgAlaThrGlnGlyThrTyrSerProSerArgGlnGluLysGluGlySerArgValGluMetTrpAsnLeuMetProProProAlaMetGluArgLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "A", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2626C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "C", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.2834C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "A", "end": 2289, "endIntronDirection": "+", "endIntronOffset": 6042, "referenceAllele": "C", "start": 2289, "startIntronDirection": "+", "startIntronOffset": 6041 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2128+6042C>A" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+6042C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }