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}, "referenceSequence": "http://reg.genome.network/refseq/RS040242" }, { "@id": "http://reg.genome.network/allele/PA127097", "coordinates": [ { "allele": "A", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.2:c.2234C>A" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Ser745Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS040243" }, { "coordinates": [ { "allele": "A", "end": 2538, "referenceAllele": "C", "start": 2537 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514298.1:c.1646C>A" ], "proteinEffect": { "hgvs": "XP_011512600.1:p.Ser549Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081523" }, { "coordinates": [ { "allele": "A", "end": 2014, "referenceAllele": "C", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.1:c.1778C>A" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Ser593Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081524" }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514300.1:c.1598C>A" ], "proteinEffect": { "hgvs": "XP_011512602.1:p.Ser533Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081527" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.2:c.1778C>A" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Ser593Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543264" }, { "coordinates": [ { "allele": "A", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010250.1:c.2492C>A" ], "proteinEffect": { "hgvs": "XP_016865739.1:p.Ser831Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564355" }, { "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010251.2:c.1310C>A" ], "proteinEffect": { "hgvs": "XP_016865740.1:p.Ser437Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564356" }, { "@id": "http://reg.genome.network/allele/PA127098", "coordinates": [ { "allele": "A", "end": 2719, "referenceAllele": "C", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.3:c.2492C>A" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Ser831Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS699534", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.2492C>A" }, "RefSeq": { "hgvs": "NM_080680.3:c.2492C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Ser831Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Ser831Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA127097", "coordinates": [ { "allele": "A", "end": 2461, "referenceAllele": "C", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.3:c.2234C>A" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Ser745Ter", "hgvsWellDefined": "NP_542412.2:p.Ser745_Gly1650delinsGlyLysSerGlyProArgGlyGluArgGlyProThrGlyProArgGlyGlnArgGlyProArgGlyAlaThrGlyLysSerGlyAlaLysGlyThrSerGlyGlyAspGlyProHisGlyProProGlyGluArgGlyLeuProGlyProGlnGlyProAsnGlyPheProGlyProLysGlyProProGlyProProGlyLysAspGlyLeuProGlyHisProGlyGlnArgGlyGluValGlyPheGlnGlyLysThrGlyProProGlyProProGlyValValGlyProGlnGlyAlaAlaGlyGluThrGlyProMetGlyGluArgGlyHisProGlyProProGlyProProGlyGluGlnGlyLeuProGlyThrAlaGlyLysGluGlyThrLysGlyAspProGlyProProGlyAlaProGlyLysAspGlyProAlaGlyLeuArgGlyPheProGlyGluArgGlyLeuProGlyThrAlaGlyGlyProGlyLeuLysGlyAsnGluGlyProSerGlyProProGlyProAlaGlySerProGlyGluArgGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699535" }, { "@id": "http://reg.genome.network/allele/PA127096", "coordinates": [ { "allele": "A", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.3:c.2171C>A" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Ser724Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS729056" } ], "type": "nucleotide" }