{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374599588", "communityStandardTitle": [ "NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1104363", "active": true, "id": "COSM1104363" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325871[alleleid]", "alleleId": 1325871, "preferredName": "NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334897", "RCV": [ "RCV001815630", "RCV001869636" ], "variationId": 1334897 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.117050997C>T?assembly=hg19", "id": "chr9:g.117050997C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.114288717C>T?assembly=hg38", "id": "chr9:g.114288717C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/753461513", "rs": 753461513 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114288717-C-T?dataset=gnomad_r4", "id": "9-114288717-C-T", "variant": "9:114288717 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 114288717, "referenceAllele": "C", "start": 114288716 } ], "hgvs": [ "NC_000009.12:g.114288717C>T", "CM000671.2:g.114288717C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 117050997, "referenceAllele": "C", "start": 117050996 } ], "hgvs": [ "NC_000009.11:g.117050997C>T", "CM000671.1:g.117050997C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 116090818, "referenceAllele": "C", "start": 116090817 } ], "hgvs": [ "NC_000009.10:g.116090818C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 138173, "referenceAllele": "C", "start": 138172 } ], "hgvs": [ "NG_034260.1:g.138173C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005834" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4474, "referenceAllele": "C", "start": 4473 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.8:c.4060C>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Arg1354Ter", "hgvsWellDefined": "ENSP00000348385.3:p.Arg1354_Leu1860delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748746", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.4060C>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.4060C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Arg1354Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Arg1354Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "C", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.7:c.4060C>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Arg1354Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263640" }, { "coordinates": [ { "allele": "T", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000494090.6:c.2953C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331108" }, { "@id": "http://reg.genome.network/allele/PA2573097029", "coordinates": [ { "allele": "T", "end": 4466, "referenceAllele": "C", "start": 4465 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "NM_032888.3:c.4060C>T" ], "proteinEffect": { "hgvs": "NP_116277.2:p.Arg1354Ter", "hgvsWellDefined": "NP_116277.2:p.Arg1354_Leu1860delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039386" }, { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "C", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717308.2:c.4006C>T" ], "proteinEffect": { "hgvs": "XP_006717371.1:p.Arg1336Ter", "hgvsWellDefined": "XP_006717371.1:p.Arg1336_Leu1842delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072110" }, { "coordinates": [ { "allele": "T", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717310.2:c.1741C>T" ], "proteinEffect": { "hgvs": "XP_006717373.1:p.Arg581Ter", "hgvsWellDefined": "XP_006717373.1:p.Arg581_Leu1087delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072111" }, { "coordinates": [ { "allele": "T", "end": 4084, "referenceAllele": "C", "start": 4083 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519138.1:c.4054C>T" ], "proteinEffect": { "hgvs": "XP_011517440.1:p.Arg1352Ter", "hgvsWellDefined": "XP_011517440.1:p.Arg1352_Leu1858delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086311" }, { "coordinates": [ { "allele": "T", "end": 4062, "referenceAllele": "C", "start": 4061 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519139.1:c.4036C>T" ], "proteinEffect": { "hgvs": "XP_011517441.1:p.Arg1346Ter", "hgvsWellDefined": "XP_011517441.1:p.Arg1346_Leu1852delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086312" }, { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "C", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519140.1:c.4006C>T" ], "proteinEffect": { "hgvs": "XP_011517442.1:p.Arg1336Ter", "hgvsWellDefined": "XP_011517442.1:p.Arg1336_Leu1842delinsGlyAspArgGlyGluProGlyAspProGlyTyrProGlyGlnGluGlyValGlnGlyLeuArgGlyLysProGlyGlnGlnGlyGlnProGlyHisProGlyProArgGlyTrpProGlyProLysGlySerLysGlyAlaGluGlyProLysGlyLysGlnGlyLysAlaGlyAlaProGlyArgArgGlyValGlnGlyLeuGlnGlyLeuProGlyProArgGlyValValGlyArgGlnGlyLeuGluGlyIleAlaGlyProAspGlyLeuProGlyArgAspGlyGlnAlaGlyGlnGlnGlyGluGlnGlyAspAspGlyAspProGlyProMetGlyProAlaGlyLysArgGlyAsnProGlyValAlaGlyLeuProGlyAlaGlnGlyProProGlyPheLysGlyGluSerGlyLeuProGlyGlnLeuGlyProProGlyLysArgGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS671452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.4060C>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.4060C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Arg1354Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Arg1354Ter" } } } } ], "type": "nucleotide" }