{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA244173", "communityStandardTitle": [ "NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193956[alleleid]", "alleleId": 193956, "preferredName": "NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196795", "RCV": [ "RCV000177662", "RCV001273073", "RCV001080328", "RCV003150971" ], "variationId": 196795 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-88481649-C-T", "id": "12-88481649-C-T", "variant": "12:88481649 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88481649C>T?assembly=hg19", "id": "chr12:g.88481649C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88087872C>T?assembly=hg38", "id": "chr12:g.88087872C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/184143186", "rs": 184143186 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88481649-C-T?dataset=gnomad_r2_1", "id": "12-88481649-C-T", "variant": "12:88481649 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88087872-C-T?dataset=gnomad_r3", "id": "12-88087872-C-T", "variant": "12:88087872 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88087872-C-T?dataset=gnomad_r4", "id": "12-88087872-C-T", "variant": "12:88087872 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 88087872, "referenceAllele": "C", "start": 88087871 } ], "hgvs": [ "NC_000012.12:g.88087872C>T", "CM000674.2:g.88087872C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 88481649, "referenceAllele": "C", "start": 88481648 } ], "hgvs": [ "NC_000012.11:g.88481649C>T", "CM000674.1:g.88481649C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 87005780, "referenceAllele": "C", "start": 87005779 } ], "hgvs": [ "NC_000012.10:g.87005780C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 59345, "referenceAllele": "G", "start": 59344 } ], "hgvs": [ "NG_008417.1:g.59345G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "A", "end": 59345, "referenceAllele": "G", "start": 59344 } ], "hgvs": [ "NG_008417.2:g.59345G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000308021.8:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "G", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.8:c.1386G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759881" }, { "coordinates": [ { "allele": "A", "end": 4318, "referenceAllele": "G", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000448012.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4102G>A" }, "RefSeq": { "hgvs": "NM_025114.4:c.4102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Asp1368Asn" }, "RefSeq": { "hgvs": "NP_079390.3:p.Asp1368Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 4216, "referenceAllele": "G", "start": 4215 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.*2273G>A" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:n.*2273G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "A", "end": 2462, "referenceAllele": "G", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672647.1:n.2462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773444" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000500665.2:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000502194.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "A", "end": 4308, "referenceAllele": "G", "start": 4307 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.4081G>A" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Asp1361Asn", "hgvsWellDefined": "ENSP00000502503.1:p.Asp1361Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000502298.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "A", "end": 5190, "referenceAllele": "G", "start": 5189 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.4963G>A" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Asp1655Asn", "hgvsWellDefined": "ENSP00000502161.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.4329G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "A", "end": 4216, "referenceAllele": "G", "start": 4215 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.*2273G>A" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:n.*2273G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "A", "end": 5097, "referenceAllele": "G", "start": 5096 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.4870G>A" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Asp1624Asn", "hgvsWellDefined": "ENSP00000502559.1:p.Asp1624Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "G", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000502079.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "A", "end": 3030, "referenceAllele": "G", "start": 3029 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676181.1:n.3030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775901" }, { "coordinates": [ { "allele": "A", "end": 9828, "referenceAllele": "G", "start": 9827 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676363.1:n.9828G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776054" }, { "coordinates": [ { "allele": "A", "end": 4186, "referenceAllele": "G", "start": 4185 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.*2015G>A" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:n.*2015G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "A", "end": 4108, "referenceAllele": "G", "start": 4107 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.4108G>A" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Asp1370Asn", "hgvsWellDefined": "ENSP00000308021.7:p.Asp1370Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "A", "end": 2462, "referenceAllele": "G", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547691.6:c.1282G>A" ], "proteinEffect": { "hgvs": "ENSP00000446905.1:p.Asp428Asn", "hgvsWellDefined": "ENSP00000446905.1:p.Asp428Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS366424" }, { "coordinates": [ { "allele": "A", "end": 4446, "referenceAllele": "G", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.4102G>A" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Asp1368Asn", "hgvsWellDefined": "ENSP00000448012.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "@id": "http://reg.genome.network/allele/PA244174", "coordinates": [ { "allele": "A", "end": 4446, "referenceAllele": "G", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.4102G>A" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Asp1368Asn", "hgvsWellDefined": "NP_079390.3:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537058.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "A", "end": 5077, "referenceAllele": "G", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537059.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537060.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537061.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537062.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537063.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "A", "end": 4539, "referenceAllele": "G", "start": 4538 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.4195G>A" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Asp1399Asn", "hgvsWellDefined": "XP_011537064.1:p.Asp1399Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "A", "end": 4446, "referenceAllele": "G", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.4102G>A" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Asp1368Asn", "hgvsWellDefined": "XP_011537065.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537066.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537067.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "A", "end": 3534, "referenceAllele": "G", "start": 3533 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.3424G>A" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Asp1142Asn", "hgvsWellDefined": "XP_011537068.1:p.Asp1142Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537058.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "A", "end": 5115, "referenceAllele": "G", "start": 5114 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537059.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537060.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537061.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537062.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537063.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "A", "end": 4539, "referenceAllele": "G", "start": 4538 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.4195G>A" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Asp1399Asn", "hgvsWellDefined": "XP_011537064.1:p.Asp1399Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "A", "end": 4446, "referenceAllele": "G", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.4102G>A" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Asp1368Asn", "hgvsWellDefined": "XP_011537065.1:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537066.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Asp1655Asn", "hgvsWellDefined": "XP_011537067.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "A", "end": 3534, "referenceAllele": "G", "start": 3533 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.3424G>A" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Asp1142Asn", "hgvsWellDefined": "XP_011537068.1:p.Asp1142Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Asp1655Asn", "hgvsWellDefined": "XP_016875469.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Asp1655Asn", "hgvsWellDefined": "XP_016875470.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.4963G>A" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Asp1655Asn", "hgvsWellDefined": "XP_016875471.1:p.Asp1655Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "A", "end": 4425, "referenceAllele": "G", "start": 4424 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.4081G>A" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Asp1361Asn", "hgvsWellDefined": "XP_016875472.1:p.Asp1361Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.5307G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "G", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.5307G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA244174", "coordinates": [ { "allele": "A", "end": 4318, "referenceAllele": "G", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.4102G>A" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Asp1368Asn", "hgvsWellDefined": "NP_079390.3:p.Asp1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4102G>A" }, "RefSeq": { "hgvs": "NM_025114.4:c.4102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Asp1368Asn" }, "RefSeq": { "hgvs": "NP_079390.3:p.Asp1368Asn" } } } } ], "type": "nucleotide" }