{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344898", "communityStandardTitle": [ "NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76472[alleleid]", "alleleId": 76472, "preferredName": "NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65564", "RCV": [ "RCV000055766", "RCV001569868" ], "variationId": 65564 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1808989A>G?assembly=hg19", "id": "chr4:g.1808989A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1807262A>G?assembly=hg38", "id": "chr4:g.1807262A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913103", "rs": 121913103 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 1807262, "referenceAllele": "A", "start": 1807261 } ], "hgvs": [ "NC_000004.12:g.1807262A>G", "CM000666.2:g.1807262A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 1808989, "referenceAllele": "A", "start": 1808988 } ], "hgvs": [ "NC_000004.11:g.1808989A>G", "CM000666.1:g.1808989A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 1778787, "referenceAllele": "A", "start": 1778786 } ], "hgvs": [ "NC_000004.10:g.1778787A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 18951, "referenceAllele": "A", "start": 18950 } ], "hgvs": [ "NG_012632.1:g.18951A>G", "LRG_1021:g.18951A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2702, "referenceAllele": "A", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.9:c.2427A>G" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Ter809Trp", "hgvsWellDefined": "ENSP00000339824.4:p.Thr808_Ter809insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS904417" }, { "coordinates": [ { "allele": "G", "end": 2828, "referenceAllele": "A", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.8:c.*1477A>G" ], "proteinEffect": { "hgvs": "ENSP00000260795.3:n.*1477A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS742065" }, { "coordinates": [ { "allele": "G", "end": 2124, "referenceAllele": "A", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.6:c.2085A>G" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Ter695Trp", "hgvsWellDefined": "ENSP00000231803.1:p.Ter695Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS748505" }, { "coordinates": [ { "allele": "G", "end": 2684, "referenceAllele": "A", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.7:c.2409A>G" ], "proteinEffect": { "hgvs": "ENSP00000412903.3:p.Ter803Trp", "hgvsWellDefined": "ENSP00000412903.3:p.Thr802_Ter803insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS754484" }, { "coordinates": [ { "allele": "G", "end": 2696, "referenceAllele": "A", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.8:c.2421A>G" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Ter807Trp", "hgvsWellDefined": "ENSP00000414914.2:p.Thr806_Ter807insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS755802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.2421A>G" }, "RefSeq": { "hgvs": "NM_000142.5:c.2421A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Ter807Trp" }, "RefSeq": { "hgvs": "NP_000133.1:p.Ter807Trp" } } } }, { "coordinates": [ { "allele": "G", "end": 2620, "referenceAllele": "A", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.7:c.2353A>G" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Lys785Glu", "hgvsWellDefined": "ENSP00000420533.2:p.Lys785Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS757357" }, { "coordinates": [ { "allele": "G", "end": 2523, "referenceAllele": "A", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.6:c.2421A>G" ], "proteinEffect": { "hgvs": "ENSP00000260795.2:p.Ter807Trp", "hgvsWellDefined": "ENSP00000260795.2:p.Thr806_Ter807insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS250635" }, { "coordinates": [ { "allele": "G", "end": 2683, "referenceAllele": "A", "start": 2682 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.8:c.2427A>G" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Ter809Trp", "hgvsWellDefined": "ENSP00000339824.4:p.Thr808_Ter809insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS261022" }, { "coordinates": [ { "allele": "G", "end": 2124, "referenceAllele": "A", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.5:c.2085A>G" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Ter695Trp", "hgvsWellDefined": "ENSP00000231803.1:p.Thr694_Ter695insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS262912" }, { "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "A", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.6:c.2085A>G" ], "proteinEffect": { "hgvs": "ENSP00000412903.2:p.Ter695Trp", "hgvsWellDefined": "ENSP00000412903.2:p.Thr694_Ter695insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS282472" }, { "coordinates": [ { "allele": "G", "end": 2677, "referenceAllele": "A", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.6:c.2421A>G" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Ter807Trp", "hgvsWellDefined": "ENSP00000414914.2:p.Thr806_Ter807insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS295919" }, { "coordinates": [ { "allele": "G", "end": 2614, "referenceAllele": "A", "start": 2613 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.6:c.2353A>G" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Lys785Glu", "hgvsWellDefined": "ENSP00000420533.2:p.Lys785Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS321105" }, { "coordinates": [ { "allele": "G", "end": 2828, "referenceAllele": "A", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000613647.4:c.*1477A>G" ], "proteinEffect": { "hgvs": "ENSP00000479472.1:n.*1477A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS401838" }, { "@id": "http://reg.genome.network/allele/PA2825062586", "coordinates": [ { "allele": "G", "end": 2677, "referenceAllele": "A", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.4:c.2421A>G", "LRG_1021t1:c.2421A>G" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Ter807Trp", "hgvsWellDefined": "NP_000133.1:p.Thr806_Ter807insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS006204" }, { "@id": "http://reg.genome.network/allele/PA2825959931", "coordinates": [ { "allele": "G", "end": 2683, "referenceAllele": "A", "start": 2682 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.1:c.2427A>G", "LRG_1021t2:c.2427A>G" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Ter809Trp", "hgvsWellDefined": "NP_001156685.1:p.Thr808_Ter809insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS014364" }, { "@id": "http://reg.genome.network/allele/PA2830005109", "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "A", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.3:c.2085A>G" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Ter695Trp", "hgvsWellDefined": "NP_075254.1:p.Thr694_Ter695insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS037522" }, { "coordinates": [ { "allele": "G", "end": 2705, "referenceAllele": "A", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713868.1:c.2436A>G" ], "proteinEffect": { "hgvs": "XP_006713931.1:p.Ter812Trp", "hgvsWellDefined": "XP_006713931.1:p.Thr811_Ter812insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070395" }, { "coordinates": [ { "allele": "G", "end": 2702, "referenceAllele": "A", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713869.1:c.2433A>G" ], "proteinEffect": { "hgvs": "XP_006713932.1:p.Ter811Trp", "hgvsWellDefined": "XP_006713932.1:p.Thr810_Ter811insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070396" }, { "coordinates": [ { "allele": "G", "end": 2702, "referenceAllele": "A", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713870.1:c.2433A>G" ], "proteinEffect": { "hgvs": "XP_006713933.1:p.Ter811Trp", "hgvsWellDefined": "XP_006713933.1:p.Thr810_Ter811insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070397" }, { "coordinates": [ { "allele": "G", "end": 2699, "referenceAllele": "A", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713871.1:c.2430A>G" ], "proteinEffect": { "hgvs": "XP_006713934.1:p.Ter810Trp", "hgvsWellDefined": "XP_006713934.1:p.Thr809_Ter810insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070398" }, { "coordinates": [ { "allele": "G", "end": 2693, "referenceAllele": "A", "start": 2692 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713872.1:c.2424A>G" ], "proteinEffect": { "hgvs": "XP_006713935.1:p.Ter808Trp", "hgvsWellDefined": "XP_006713935.1:p.Thr807_Ter808insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070399" }, { "coordinates": [ { "allele": "G", "end": 2693, "referenceAllele": "A", "start": 2692 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713873.1:c.2424A>G" ], "proteinEffect": { "hgvs": "XP_006713936.1:p.Ter808Trp", "hgvsWellDefined": "XP_006713936.1:p.Thr807_Ter808insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS070400" }, { "coordinates": [ { "allele": "G", "end": 2699, "referenceAllele": "A", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513420.1:c.2430A>G" ], "proteinEffect": { "hgvs": "XP_011511722.1:p.Ter810Trp", "hgvsWellDefined": "XP_011511722.1:p.Thr809_Ter810insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS080668" }, { "coordinates": [ { "allele": "G", "end": 2696, "referenceAllele": "A", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513422.1:c.2427A>G" ], "proteinEffect": { "hgvs": "XP_011511724.1:p.Ter809Trp", "hgvsWellDefined": "XP_011511724.1:p.Thr808_Ter809insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS080669" }, { "@id": "http://reg.genome.network/allele/PA2827938173", "coordinates": [ { "allele": "G", "end": 2680, "referenceAllele": "A", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.1:c.2424A>G" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Ter808Trp", "hgvsWellDefined": "NP_001341738.1:p.Thr807_Ter808insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS522695" }, { "@id": "http://reg.genome.network/allele/PA2827938764", "coordinates": [ { "allele": "G", "end": 2609, "referenceAllele": "A", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.1:c.2353A>G" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Lys785Glu", "hgvsWellDefined": "NP_001341739.1:p.Lys785Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522696" }, { "coordinates": [ { "allele": "G", "end": 2828, "referenceAllele": "A", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.1:n.2828A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531416" }, { "@id": "http://reg.genome.network/allele/PA2827938173", "coordinates": [ { "allele": "G", "end": 2699, "referenceAllele": "A", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.2:c.2424A>G" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Ter808Trp", "hgvsWellDefined": "NP_001341738.1:p.Thr807_Ter808insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS690324" }, { "@id": "http://reg.genome.network/allele/PA2827938764", "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "A", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.2:c.2353A>G" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Lys785Glu", "hgvsWellDefined": "NP_001341739.1:p.Lys785Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690325" }, { "coordinates": [ { "allele": "G", "end": 2847, "referenceAllele": "A", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.2:n.2847A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704898" }, { "@id": "http://reg.genome.network/allele/PA2825062586", "coordinates": [ { "allele": "G", "end": 2696, "referenceAllele": "A", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.5:c.2421A>G" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Ter807Trp", "hgvsWellDefined": "NP_000133.1:p.Thr806_Ter807insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS710802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.2421A>G" }, "RefSeq": { "hgvs": "NM_000142.5:c.2421A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Ter807Trp" }, "RefSeq": { "hgvs": "NP_000133.1:p.Ter807Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825959931", "coordinates": [ { "allele": "G", "end": 2702, "referenceAllele": "A", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.2:c.2427A>G" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Ter809Trp", "hgvsWellDefined": "NP_001156685.1:p.Thr808_Ter809insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS713038" }, { "@id": "http://reg.genome.network/allele/PA2830005109", "coordinates": [ { "allele": "G", "end": 2360, "referenceAllele": "A", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.4:c.2085A>G" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Ter695Trp", "hgvsWellDefined": "NP_075254.1:p.Thr694_Ter695insTrpArgAlaThrGlyProGlnGlnCysGluGlySerLeuAlaAlaHisProAlaAlaGlyAlaGlnProLeuProGlyMetArgLeuSerAlaAspGlyGluThrAlaThrGlnSerPheGlyLeuCysValCysValCysValCysValCysValCysAlaHisProArgValProValCysValArgIleLeuProProGlyAlaGluValProTrpValSerProLeuLeuCysAsnGlyLeuLeuThrGlyAlaAlaAlaProArgGlyLeuCysSerGlyGlyThrGlnCysArgMet" }, "referenceSequence": "http://reg.genome.network/refseq/RS728610" } ], "type": "nucleotide" }