{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410497580", "communityStandardTitle": [ "NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431815[alleleid]", "alleleId": 431815, "preferredName": "NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438061", "RCV": [ "RCV000504887", "RCV001805122", "RCV002524405" ], "variationId": 438061 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.46914474C>T?assembly=hg19", "id": "chr21:g.46914474C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.45494560C>T?assembly=hg38", "id": "chr21:g.45494560C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555870809", "rs": 1555870809 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/21-45494560-C-T?dataset=gnomad_r4", "id": "21-45494560-C-T", "variant": "21:45494560 C / T" } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 45494560, "referenceAllele": "C", "start": 45494559 } ], "hgvs": [ "NC_000021.9:g.45494560C>T", "CM000683.2:g.45494560C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 46914474, "referenceAllele": "C", "start": 46914473 } ], "hgvs": [ "NC_000021.8:g.46914474C>T", "CM000683.1:g.46914474C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 45738902, "referenceAllele": "C", "start": 45738901 } ], "hgvs": [ "NC_000021.7:g.45738902C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "T", "end": 94378, "referenceAllele": "C", "start": 94377 } ], "hgvs": [ "NG_011903.1:g.94378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002052" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000355480.10:c.2908C>T" ], "proteinEffect": { "hgvs": "ENSP00000347665.5:p.Arg970Ter", "hgvsWellDefined": "ENSP00000347665.5:p.Arg970_Lys1519delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748674" }, { "coordinates": [ { "allele": "T", "end": 2434, "referenceAllele": "C", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000651438.1:c.2368C>T" ], "proteinEffect": { "hgvs": "ENSP00000498485.1:p.Arg790Ter", "hgvsWellDefined": "ENSP00000498485.1:p.Arg790_Lys1339delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771668", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651438.1:c.2368C>T" }, "RefSeq": { "hgvs": "NM_001379500.1:c.2368C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498485.1:p.Arg790Ter" }, "RefSeq": { "hgvs": "NP_001366429.1:p.Arg790Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000342220.9:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000339118.5:p.Arg137Ter", "hgvsWellDefined": "ENSP00000339118.5:p.Arg137_Lys687delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyGlnValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261507" }, { "coordinates": [ { "allele": "T", "end": 2950, "referenceAllele": "C", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000355480.9:c.2908C>T" ], "proteinEffect": { "hgvs": "ENSP00000347665.5:p.Arg970Ter", "hgvsWellDefined": "ENSP00000347665.5:p.Arg970_Lys1519delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263444" }, { "coordinates": [ { "allele": "T", "end": 3613, "referenceAllele": "C", "start": 3612 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000359759.8:c.3613C>T" ], "proteinEffect": { "hgvs": "ENSP00000352798.4:p.Arg1205Ter", "hgvsWellDefined": "ENSP00000352798.4:p.Arg1205_Lys1754delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264897" }, { "coordinates": [ { "allele": "T", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000400337.6:c.2368C>T" ], "proteinEffect": { "hgvs": "ENSP00000383191.2:p.Arg790Ter", "hgvsWellDefined": "ENSP00000383191.2:p.Arg790_Lys1339delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278999" }, { "coordinates": [ { "allele": "A", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN010937", "geneNCBI_id": 6573, "geneSymbol": "SLC19A1", "hgvs": [ "ENST00000417954.5:c.2584G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS285163" }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "ENST00000459895.1:n.122C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304759" }, { "@id": "http://reg.genome.network/allele/PA645510100", "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_030582.3:c.2908C>T" ], "proteinEffect": { "hgvs": "NP_085059.2:p.Arg970Ter", "hgvsWellDefined": "NP_085059.2:p.Arg970_Lys1516delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038334" }, { "@id": "http://reg.genome.network/allele/PA2830167707", "coordinates": [ { "allele": "T", "end": 3634, "referenceAllele": "C", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130444.2:c.3613C>T" ], "proteinEffect": { "hgvs": "NP_569711.2:p.Arg1205Ter", "hgvsWellDefined": "NP_569711.2:p.Arg1205_Lys1751delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040368" }, { "coordinates": [ { "allele": "T", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130445.3:c.2368C>T" ], "proteinEffect": { "hgvs": "NP_569712.2:p.Arg790Ter", "hgvsWellDefined": "NP_569712.2:p.Arg790_Lys1336delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040369" }, { "@id": "http://reg.genome.network/allele/PA645510100", "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_030582.4:c.2908C>T" ], "proteinEffect": { "hgvs": "NP_085059.2:p.Arg970Ter", "hgvsWellDefined": "NP_085059.2:p.Arg970_Lys1516delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670969" }, { "@id": "http://reg.genome.network/allele/PA2830167707", "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130444.3:c.3613C>T" ], "proteinEffect": { "hgvs": "NP_569711.2:p.Arg1205Ter", "hgvsWellDefined": "NP_569711.2:p.Arg1205_Lys1751delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671793" }, { "coordinates": [ { "allele": "T", "end": 2434, "referenceAllele": "C", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_130445.4:c.2368C>T" ], "proteinEffect": { "hgvs": "NP_569712.2:p.Arg790Ter", "hgvsWellDefined": "NP_569712.2:p.Arg790_Lys1336delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671794" }, { "@id": "http://reg.genome.network/allele/PA2828833749", "coordinates": [ { "allele": "T", "end": 2434, "referenceAllele": "C", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN002195", "geneNCBI_id": 80781, "geneSymbol": "COL18A1", "hgvs": [ "NM_001379500.1:c.2368C>T" ], "proteinEffect": { "hgvs": "NP_001366429.1:p.Arg790Ter", "hgvsWellDefined": "NP_001366429.1:p.Arg790_Lys1339delinsGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722006", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651438.1:c.2368C>T" }, "RefSeq": { "hgvs": "NM_001379500.1:c.2368C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498485.1:p.Arg790Ter" }, "RefSeq": { "hgvs": "NP_001366429.1:p.Arg790Ter" } } } } ], "type": "nucleotide" }