{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338902832", "communityStandardTitle": [ "NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1087132[alleleid]", "alleleId": 1087132, "preferredName": "NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098428", "RCV": [ "RCV001420359" ], "variationId": 1098428 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.22156526G>T?assembly=hg19", "id": "chr1:g.22156526G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21830033G>T?assembly=hg38", "id": "chr1:g.21830033G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1215934207", "rs": 1215934207 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-21830033-G-T?dataset=gnomad_r4", "id": "1-21830033-G-T", "variant": "1:21830033 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21830033, "referenceAllele": "G", "start": 21830032 } ], "hgvs": [ "NC_000001.11:g.21830033G>T", "CM000663.2:g.21830033G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 22156526, "referenceAllele": "G", "start": 22156525 } ], "hgvs": [ "NC_000001.10:g.22156526G>T", "CM000663.1:g.22156526G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 22029113, "referenceAllele": "G", "start": 22029112 } ], "hgvs": [ "NC_000001.9:g.22029113G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 112225, "referenceAllele": "C", "start": 112224 } ], "hgvs": [ "NG_016740.1:g.112225C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003265" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 11823, "referenceAllele": "C", "start": 11822 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "ENST00000374695.8:c.11730C>A" ], "proteinEffect": { "hgvs": "ENSP00000363827.3:p.Cys3910Ter", "hgvsWellDefined": "ENSP00000363827.3:p.Cys3910_Ser4391delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751480", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374695.8:c.11730C>A" }, "RefSeq": { "hgvs": "NM_005529.7:c.11730C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363827.3:p.Cys3910Ter" }, "RefSeq": { "hgvs": "NP_005520.4:p.Cys3910Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 11810, "referenceAllele": "C", "start": 11809 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "ENST00000374695.7:c.11730C>A" ], "proteinEffect": { "hgvs": "ENSP00000363827.3:p.Cys3910Ter", "hgvsWellDefined": "ENSP00000363827.3:p.Cys3910_Ser4391delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270365" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "ENST00000486901.1:n.681C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325595" }, { "coordinates": [ { "allele": "A", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "ENST00000635682.1:c.881C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS408215" }, { "@id": "http://reg.genome.network/allele/PA2499246474", "coordinates": [ { "allele": "A", "end": 11813, "referenceAllele": "C", "start": 11812 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "NM_001291860.1:c.11733C>A" ], "proteinEffect": { "hgvs": "NP_001278789.1:p.Cys3911Ter", "hgvsWellDefined": "NP_001278789.1:p.Cys3911_Ser4392delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024346" }, { "@id": "http://reg.genome.network/allele/PA2829596266", "coordinates": [ { "allele": "A", "end": 11810, "referenceAllele": "C", "start": 11809 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "NM_005529.6:c.11730C>A" ], "proteinEffect": { "hgvs": "NP_005520.4:p.Cys3910Ter", "hgvsWellDefined": "NP_005520.4:p.Cys3910_Ser4391delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030620" }, { "coordinates": [ { "allele": "A", "end": 12309, "referenceAllele": "C", "start": 12308 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_006710594.2:c.12294C>A" ], "proteinEffect": { "hgvs": "XP_006710657.1:p.Cys4098Ter", "hgvsWellDefined": "XP_006710657.1:p.Cys4098_Ser4579delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068699" }, { "coordinates": [ { "allele": "A", "end": 12261, "referenceAllele": "C", "start": 12260 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_006710595.2:c.12246C>A" ], "proteinEffect": { "hgvs": "XP_006710658.1:p.Cys4082Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS068700" }, { "coordinates": [ { "allele": "A", "end": 12240, "referenceAllele": "C", "start": 12239 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_006710596.2:c.12225C>A" ], "proteinEffect": { "hgvs": "XP_006710659.1:p.Cys4075Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS068701" }, { "coordinates": [ { "allele": "A", "end": 11763, "referenceAllele": "C", "start": 11762 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_006710597.2:c.11748C>A" ], "proteinEffect": { "hgvs": "XP_006710660.1:p.Cys3916Ter", "hgvsWellDefined": "XP_006710660.1:p.Cys3916_Ser4397delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068702" }, { "coordinates": [ { "allele": "A", "end": 12312, "referenceAllele": "C", "start": 12311 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541317.1:c.12297C>A" ], "proteinEffect": { "hgvs": "XP_011539619.1:p.Cys4099Ter", "hgvsWellDefined": "XP_011539619.1:p.Cys4099_Ser4580delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108259" }, { "coordinates": [ { "allele": "A", "end": 12294, "referenceAllele": "C", "start": 12293 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541318.1:c.12279C>A" ], "proteinEffect": { "hgvs": "XP_011539620.1:p.Cys4093Ter", "hgvsWellDefined": "XP_011539620.1:p.Cys4093_Ser4574delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108260" }, { "coordinates": [ { "allele": "A", "end": 12312, "referenceAllele": "C", "start": 12311 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541319.1:c.12297C>A" ], "proteinEffect": { "hgvs": "XP_011539621.1:p.Cys4099Ter", "hgvsWellDefined": "XP_011539621.1:p.Cys4099_Ser4539delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108261" }, { "coordinates": [ { "allele": "A", "end": 12033, "referenceAllele": "C", "start": 12032 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541320.1:c.12018C>A" ], "proteinEffect": { "hgvs": "XP_011539622.1:p.Cys4006Ter", "hgvsWellDefined": "XP_011539622.1:p.Cys4006_Ser4487delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108262" }, { "coordinates": [ { "allele": "A", "end": 11817, "referenceAllele": "C", "start": 11816 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541321.1:c.11802C>A" ], "proteinEffect": { "hgvs": "XP_011539623.1:p.Cys3934Ter", "hgvsWellDefined": "XP_011539623.1:p.Cys3934_Ser4415delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108263" }, { "coordinates": [ { "allele": "A", "end": 12294, "referenceAllele": "C", "start": 12293 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_011541318.2:c.12279C>A" ], "proteinEffect": { "hgvs": "XP_011539620.1:p.Cys4093Ter", "hgvsWellDefined": "XP_011539620.1:p.Cys4093_Ser4574delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554390" }, { "coordinates": [ { "allele": "A", "end": 11940, "referenceAllele": "C", "start": 11939 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_017001120.1:c.11925C>A" ], "proteinEffect": { "hgvs": "XP_016856609.1:p.Cys3975Ter", "hgvsWellDefined": "XP_016856609.1:p.Cys3975_Ser4456delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557347" }, { "coordinates": [ { "allele": "A", "end": 11889, "referenceAllele": "C", "start": 11888 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_017001121.1:c.11874C>A" ], "proteinEffect": { "hgvs": "XP_016856610.1:p.Cys3958Ter", "hgvsWellDefined": "XP_016856610.1:p.Cys3958_Ser4439delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557348" }, { "coordinates": [ { "allele": "A", "end": 11886, "referenceAllele": "C", "start": 11885 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "XM_017001122.1:c.11871C>A" ], "proteinEffect": { "hgvs": "XP_016856611.1:p.Cys3957Ter", "hgvsWellDefined": "XP_016856611.1:p.Cys3957_Ser4438delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557349" }, { "@id": "http://reg.genome.network/allele/PA2829596266", "coordinates": [ { "allele": "A", "end": 11823, "referenceAllele": "C", "start": 11822 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "NM_005529.7:c.11730C>A" ], "proteinEffect": { "hgvs": "NP_005520.4:p.Cys3910Ter", "hgvsWellDefined": "NP_005520.4:p.Cys3910_Ser4391delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374695.8:c.11730C>A" }, "RefSeq": { "hgvs": "NM_005529.7:c.11730C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363827.3:p.Cys3910Ter" }, "RefSeq": { "hgvs": "NP_005520.4:p.Cys3910Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499246474", "coordinates": [ { "allele": "A", "end": 11826, "referenceAllele": "C", "start": 11825 } ], "gene": "http://reg.genome.network/gene/GN005273", "geneNCBI_id": 3339, "geneSymbol": "HSPG2", "hgvs": [ "NM_001291860.2:c.11733C>A" ], "proteinEffect": { "hgvs": "NP_001278789.1:p.Cys3911Ter", "hgvsWellDefined": "NP_001278789.1:p.Cys3911_Ser4392delinsArgCysHisLeuGlyArgSerGlyLeuArgCysGluGluGlyValThrValThrThrProSerLeuSerGlyAlaGlySerTyrLeuAlaLeuProAlaLeuThrAsnThrHisHisGluLeuArgLeuAspValGluPheLysProLeuAlaProAspGlyValLeuLeuPheSerGlyGlyLysSerGlyProValGluAspPheValSerLeuAlaMetValGlyGlyHisLeuGluPheArgTyrGluLeuGlySerGlyLeuAlaValLeuArgSerAlaGluProLeuAlaLeuGlyArgTrpHisArgValSerAlaGluArgLeuAsnLysAspGlySerLeuArgValAsnGlyGlyArgProValLeuArgSerSerProGlyLysSerGlnGlyLeuAsnLeuHisThrLeuLeuTyrLeuGlyGlyValGluProSerValProLeuSerProAlaThrAsnMetSerAlaHisPheArgGlyCysValGlyGluValSerValAsnGlyLysArgLeuAspLeuThrTyrSerPheLeuGlySerGlnGlyIleGlyGlnCysTyrAspSerSerProCysGluArgGlnProCysGlnHisGlyAlaThrCysMetProAlaGlyGluTyrGluPheGlnCysLeuCysArgAspGlyPheLysGlyAspLeuCysGluHisGluGluAsnProCysGlnLeuArgGluProCysLeuHisGlyGlyThrCysGlnGlyThrArgCysLeuCysLeuProGlyPheSerGlyProArgCysGlnGlnGlySerGlyHisGlyIleAlaGluSerAspTrpHisLeuGluGlySerGlyGlyAsnAspAlaProGlyGlnTyrGlyAlaTyrPheHisAspAspGlyPheLeuAlaPheProGlyHisValPheSerArgSerLeuProGluValProGluThrIleGluLeuGluValArgThrSerThrAlaSerGlyLeuLeuLeuTrpGlnGlyValGluValGlyGluAlaGlyGlnGlyLysAspPheIleSerLeuGlyLeuGlnAspGlyHisLeuValPheArgTyrGlnLeuGlySerGlyGluAlaArgLeuValSerGluAspProIleAsnAspGlyGluTrpHisArgValThrAlaLeuArgGluGlyArgArgGlySerIleGlnValAspGlyGluGluLeuValSerGlyArgSerProGlyProAsnValAlaValAsnAlaLysGlySerValTyrIleGlyGlyAlaProAspValAlaThrLeuThrGlyGlyArgPheSerSerGlyIleThrGlyCysValLysAsnLeuValLeuHisSerAlaArgProGlyAlaProProProGlnProLeuAspLeuGlnHisArgAlaGlnAlaGlyAlaAsnThrArgProCysProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682883" } ], "type": "nucleotide" }