{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410499796", "communityStandardTitle": [ "NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3184420[alleleid]", "alleleId": 3184420, "preferredName": "NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3024164", "RCV": [ "RCV003883229" ], "variationId": 3024164 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.46925341C>A?assembly=hg19", "id": "chr21:g.46925341C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.45505427C>A?assembly=hg38", "id": "chr21:g.45505427C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2517795259", "rs": 2517795259 } ], "gnomAD_4": [ { "@id": 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"http://reg.genome.network/allele/PA2830036181", "coordinates": [ { "allele": "A", "end": 3623, "referenceAllele": "C", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_030582.4:c.3614C>A" ], "proteinEffect": { "hgvs": "NP_085059.2:p.Ser1205Ter", "hgvsWellDefined": "NP_085059.2:p.Ser1205_Lys1516delinsGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670969" }, { "@id": "http://reg.genome.network/allele/PA2742006869", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "C", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130444.3:c.4319C>A" ], "proteinEffect": { "hgvs": "NP_569711.2:p.Ser1440Ter", "hgvsWellDefined": "NP_569711.2:p.Ser1440_Lys1751delinsGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671793" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "C", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130445.4:c.3074C>A" ], "proteinEffect": { "hgvs": "NP_569712.2:p.Ser1025Ter", "hgvsWellDefined": "NP_569712.2:p.Ser1025_Lys1336delinsGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671794" }, { "@id": "http://reg.genome.network/allele/PA2828833891", "coordinates": [ { "allele": "A", "end": 3149, "referenceAllele": "C", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_001379500.1:c.3083C>A" ], "proteinEffect": { "hgvs": "NP_001366429.1:p.Ser1028Ter", "hgvsWellDefined": "NP_001366429.1:p.Ser1028_Lys1339delinsGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722006", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651438.1:c.3083C>A" }, "RefSeq": { "hgvs": "NM_001379500.1:c.3083C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498485.1:p.Ser1028Ter" }, "RefSeq": { "hgvs": "NP_001366429.1:p.Ser1028Ter" } } } } ], "type": "nucleotide" }