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"NP_085059.2:p.Arg1258_Lys1516delinsGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670969" }, { "@id": "http://reg.genome.network/allele/PA916058679", "coordinates": [ { "allele": "T", "end": 4486, "referenceAllele": "C", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130444.3:c.4477C>T" ], "proteinEffect": { "hgvs": "NP_569711.2:p.Arg1493Ter", "hgvsWellDefined": "NP_569711.2:p.Arg1493_Lys1751delinsGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671793" }, { "coordinates": [ { "allele": "T", "end": 3298, "referenceAllele": "C", "start": 3297 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130445.4:c.3232C>T" ], "proteinEffect": { "hgvs": "NP_569712.2:p.Arg1078Ter", "hgvsWellDefined": "NP_569712.2:p.Arg1078_Lys1336delinsGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671794" }, { "@id": "http://reg.genome.network/allele/PA2828833964", "coordinates": [ { "allele": "T", "end": 3307, "referenceAllele": "C", "start": 3306 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_001379500.1:c.3241C>T" ], "proteinEffect": { "hgvs": "NP_001366429.1:p.Arg1081Ter", "hgvsWellDefined": "NP_001366429.1:p.Arg1081_Lys1339delinsGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722006", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651438.1:c.3241C>T" }, "RefSeq": { "hgvs": "NM_001379500.1:c.3241C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498485.1:p.Arg1081Ter" }, "RefSeq": { "hgvs": "NP_001366429.1:p.Arg1081Ter" } } } } ], "type": "nucleotide" }