{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2103436705", "communityStandardTitle": [ "NM_006493.4(CLN5):c.1028dup (p.Tyr343Ter)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2034350770", "rs": 2034350770 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 77000920, "referenceAllele": "", "start": 77000920 } ], "hgvs": [ "NC_000013.11:g.77000920dup", "CM000675.2:g.77000920dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 77575055, "referenceAllele": "", "start": 77575055 } ], "hgvs": [ "NC_000013.10:g.77575055dup", "CM000675.1:g.77575055dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 76473056, "referenceAllele": "", "start": 76473056 } ], "hgvs": [ "NC_000013.9:g.76473056dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 13997, "referenceAllele": "", "start": 13997 } ], "hgvs": [ "NG_009064.1:g.13997dup", "LRG_692:g.13997dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001406" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000377453.9:c.1028dup" ], "proteinEffect": { "hgvs": "ENSP00000366673.5:p.Tyr343Ter", "hgvsWellDefined": "ENSP00000366673.5:p.Tyr343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS751919", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377453.9:c.1028dup" }, "RefSeq": { "hgvs": "NM_006493.4:c.1028dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366673.5:p.Tyr343Ter" }, "RefSeq": { "hgvs": "NP_006484.2:p.Tyr343Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1102, "referenceAllele": "", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000616833.6:c.*470dup" ], "proteinEffect": { "hgvs": "ENSP00000479547.3:n.*470dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS762081" }, { "coordinates": [ { "allele": "A", "end": 174, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 174, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "hgvs": [ "ENST00000635838.1:c.174+4793dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS762675" }, { "coordinates": [ { "allele": "A", "end": 566, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 566, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000635905.1:n.566+4793dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS762724" }, { "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000635915.1:c.1026dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS762732" }, { "coordinates": [ { "allele": "A", "end": 2467, "referenceAllele": "", "start": 2467 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636183.2:c.1028dup" ], "proteinEffect": { "hgvs": "ENSP00000490181.2:p.Tyr343Ter", "hgvsWellDefined": "ENSP00000490181.2:p.Tyr343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762933" }, { "coordinates": [ { "allele": "A", "end": 568, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 568, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636525.2:c.565+4793dup" ], "proteinEffect": { "hgvs": "ENSP00000490078.2:n.565+4793dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763182" }, { "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636681.1:c.*719dup" ], "proteinEffect": { "hgvs": "ENSP00000489922.1:n.*719dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763305" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636705.1:c.864dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS763321" }, { "coordinates": [ { "allele": "A", "end": 566, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 566, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636767.2:c.565+4793dup" ], "proteinEffect": { "hgvs": "ENSP00000489855.2:n.565+4793dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763364" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000636780.2:c.*477dup" ], "proteinEffect": { "hgvs": "ENSP00000489809.2:n.*477dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763375" }, { "coordinates": [ { "allele": "A", "end": 213, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 213, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "hgvs": [ "ENST00000637192.1:c.213+4793dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS763681" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000637278.1:n.1354dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS763748" }, { "coordinates": [ { "allele": "A", "end": 577, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 577, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000637397.2:c.565+4793dup" ], "proteinEffect": { "hgvs": "ENSP00000490422.2:n.565+4793dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763836" }, { "coordinates": [ { "allele": "A", "end": 169, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 169, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "hgvs": [ "ENST00000638101.1:c.169+4793dup" ], "proteinEffect": { "hgvs": "ENSP00000490535.1:n.169+4793dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS764342" }, { "coordinates": [ { "allele": "A", "end": 586, "endIntronDirection": "+", "endIntronOffset": 4793, "referenceAllele": "", "start": 586, "startIntronDirection": "+", "startIntronOffset": 4793 } ], "hgvs": [ "ENST00000638147.2:c.565+4793dup" ], "proteinEffect": { "hgvs": "ENSP00000490953.2:n.565+4793dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS764377" }, { "coordinates": [ { "allele": "A", "end": 2467, "referenceAllele": "", "start": 2467 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000377453.7:c.1175dup" ], "proteinEffect": { "hgvs": "ENSP00000366673.3:p.Tyr392Ter", "hgvsWellDefined": "ENSP00000366673.3:p.Tyr392Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS271604" }, { "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN013599", "geneNCBI_id": 26224, "geneSymbol": "FBXL3", "hgvs": [ "ENST00000477982.2:n.1389dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS318680" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "-", "endIntronOffset": 7968, "referenceAllele": "", "start": 173, "startIntronDirection": "-", "startIntronOffset": 7968 } ], "gene": "http://reg.genome.network/gene/GN013599", "geneNCBI_id": 26224, "geneSymbol": "FBXL3", "hgvs": [ "ENST00000485797.2:n.174-7969dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS324744" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "ENST00000616833.4:c.1028dup" ], "proteinEffect": { "hgvs": "ENSP00000479547.1:p.Tyr343Ter", "hgvsWellDefined": "ENSP00000479547.1:p.Tyr343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS403223" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.2:c.1175dup", "LRG_692t1:c.1175dup" ], "proteinEffect": { "hgvs": "NP_006484.1:p.Tyr392Ter", "hgvsWellDefined": "NP_006484.1:p.Tyr392Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS031503" }, { "coordinates": [ { "allele": "A", "end": 1089, "referenceAllele": "", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_001366624.1:c.*477dup" ], "proteinEffect": { "hgvs": "NP_001353553.1:n.*477dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS524748" }, { "@id": "http://reg.genome.network/allele/PA1139712855", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.3:c.1028dup" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Tyr343Ter", "hgvsWellDefined": "NP_006484.2:p.Tyr343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS525406" }, { "coordinates": [ { "allele": "T", "end": 982, "endIntronDirection": "-", "endIntronOffset": 7968, "referenceAllele": "", "start": 982, "startIntronDirection": "-", "startIntronOffset": 7968 } ], "gene": "http://reg.genome.network/gene/GN013599", "geneNCBI_id": 26224, "geneSymbol": "FBXL3", "hgvs": [ "XM_017020538.2:c.644-7969dup" ], "proteinEffect": { "hgvs": "XP_016876027.1:n.644-7969dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS572004" }, { "coordinates": [ { "allele": "A", "end": 1089, "referenceAllele": "", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_001366624.2:c.*477dup" ], "proteinEffect": { "hgvs": "NP_001353553.1:n.*477dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS691217" }, { "@id": "http://reg.genome.network/allele/PA1139712855", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.4:c.1028dup" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Tyr343Ter", "hgvsWellDefined": "NP_006484.2:p.Tyr343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696728", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377453.9:c.1028dup" }, "RefSeq": { "hgvs": "NM_006493.4:c.1028dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366673.5:p.Tyr343Ter" }, "RefSeq": { "hgvs": "NP_006484.2:p.Tyr343Ter" } } } } ], "type": "nucleotide" }