{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2825001288", "communityStandardTitle": [ "NM_000142.5(FGFR3):c.1618_1620delinsCAT (p.Asn540His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3393957[alleleid]", "alleleId": 3393957, "preferredName": "NM_000142.5(FGFR3):c.1618_1620delinsCAT (p.Asn540His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3234835", "RCV": [ "RCV004547183" ], "variationId": 3234835 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2546829280", "rs": 2546829280 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "CAT", "end": 1805644, "referenceAllele": "AAC", "start": 1805641 } ], "hgvs": [ "NC_000004.12:g.1805642_1805644delinsCAT", "CM000666.2:g.1805642_1805644delinsCAT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "CAT", "end": 1807371, "referenceAllele": "AAC", "start": 1807368 } ], "hgvs": [ "NC_000004.11:g.1807369_1807371delinsCAT", "CM000666.1:g.1807369_1807371delinsCAT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "CAT", "end": 1777169, "referenceAllele": "AAC", "start": 1777166 } ], "hgvs": [ "NC_000004.10:g.1777167_1777169delinsCAT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "CAT", "end": 17333, "referenceAllele": "AAC", "start": 17330 } ], "hgvs": [ "NG_012632.1:g.17331_17333delinsCAT", "LRG_1021:g.17331_17333delinsCAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS002487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CAT", "end": 1901, "referenceAllele": "AAC", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.9:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Asn542His", "hgvsWellDefined": "ENSP00000339824.4:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS904417" }, { "coordinates": [ { "allele": "CAT", "end": 2027, "referenceAllele": "AAC", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.8:c.*674_*676delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000260795.3:n.*674_*676delinsCAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS742065" }, { "coordinates": [ { "allele": "CAT", "end": 1323, "referenceAllele": "AAC", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.6:c.1282_1284delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Asn428His", "hgvsWellDefined": "ENSP00000231803.1:p.Asn428His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748505" }, { "coordinates": [ { "allele": "CAT", "end": 1883, "referenceAllele": "AAC", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.7:c.1606_1608delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000412903.3:p.Asn536His", "hgvsWellDefined": "ENSP00000412903.3:p.Asn536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754484" }, { "coordinates": [ { "allele": "CAT", "end": 1895, "referenceAllele": "AAC", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.8:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Asn540His", "hgvsWellDefined": "ENSP00000414914.2:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS755802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1618_1620delinsCAT" }, "RefSeq": { "hgvs": "NM_000142.5:c.1618_1620delinsCAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Asn540His" }, "RefSeq": { "hgvs": "NP_000133.1:p.Asn540His" } } } }, { "coordinates": [ { "allele": "CAT", "end": 1890, "referenceAllele": "AAC", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.7:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Asn541His", "hgvsWellDefined": "ENSP00000420533.2:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS757357" }, { "coordinates": [ { "allele": "CAT", "end": 1722, "referenceAllele": "AAC", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000260795.6:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000260795.2:p.Asn540His", "hgvsWellDefined": "ENSP00000260795.2:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS250635" }, { "coordinates": [ { "allele": "CAT", "end": 1882, "referenceAllele": "AAC", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000340107.8:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000339824.4:p.Asn542His", "hgvsWellDefined": "ENSP00000339824.4:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS261022" }, { "coordinates": [ { "allele": "CAT", "end": 1323, "referenceAllele": "AAC", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000352904.5:c.1282_1284delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000231803.1:p.Asn428His", "hgvsWellDefined": "ENSP00000231803.1:p.Asn428His" }, "referenceSequence": "http://reg.genome.network/refseq/RS262912" }, { "coordinates": [ { "allele": "CAT", "end": 1540, "referenceAllele": "AAC", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000412135.6:c.1282_1284delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000412903.2:p.Asn428His", "hgvsWellDefined": "ENSP00000412903.2:p.Asn428His" }, "referenceSequence": "http://reg.genome.network/refseq/RS282472" }, { "coordinates": [ { "allele": "CAT", "end": 1876, "referenceAllele": "AAC", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000440486.6:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000414914.2:p.Asn540His", "hgvsWellDefined": "ENSP00000414914.2:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS295919" }, { "coordinates": [ { "allele": "CAT", "end": 686, "referenceAllele": "AAC", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000469068.1:n.684_686delinsCAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS311835" }, { "coordinates": [ { "allele": "CAT", "end": 1884, "referenceAllele": "AAC", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000481110.6:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000420533.2:p.Asn541His", "hgvsWellDefined": "ENSP00000420533.2:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS321105" }, { "coordinates": [ { "allele": "CAT", "end": 2027, "referenceAllele": "AAC", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "ENST00000613647.4:c.*674_*676delinsCAT" ], "proteinEffect": { "hgvs": "ENSP00000479472.1:n.*674_*676delinsCAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS401838" }, { "@id": "http://reg.genome.network/allele/PA2825062221", "coordinates": [ { "allele": "CAT", "end": 1876, "referenceAllele": "AAC", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.4:c.1618_1620delinsCAT", "LRG_1021t1:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Asn540His", "hgvsWellDefined": "NP_000133.1:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006204" }, { "@id": "http://reg.genome.network/allele/PA2573066335", "coordinates": [ { "allele": "CAT", "end": 1882, "referenceAllele": "AAC", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.1:c.1624_1626delinsCAT", "LRG_1021t2:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Asn542His", "hgvsWellDefined": "NP_001156685.1:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014364" }, { "@id": "http://reg.genome.network/allele/PA2830004775", "coordinates": [ { "allele": "CAT", "end": 1540, "referenceAllele": "AAC", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.3:c.1282_1284delinsCAT" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Asn428His", "hgvsWellDefined": "NP_075254.1:p.Asn428His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037522" }, { "coordinates": [ { "allele": "CAT", "end": 1901, "referenceAllele": "AAC", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713868.1:c.1630_1632delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713931.1:p.Asn544His", "hgvsWellDefined": "XP_006713931.1:p.Asn544His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070395" }, { "coordinates": [ { "allele": "CAT", "end": 1901, "referenceAllele": "AAC", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713869.1:c.1630_1632delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713932.1:p.Asn544His", "hgvsWellDefined": "XP_006713932.1:p.Asn544His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070396" }, { "coordinates": [ { "allele": "CAT", "end": 1898, "referenceAllele": "AAC", "start": 1895 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713870.1:c.1627_1629delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713933.1:p.Asn543His", "hgvsWellDefined": "XP_006713933.1:p.Asn543His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070397" }, { "coordinates": [ { "allele": "CAT", "end": 1895, "referenceAllele": "AAC", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713871.1:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713934.1:p.Asn542His", "hgvsWellDefined": "XP_006713934.1:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070398" }, { "coordinates": [ { "allele": "CAT", "end": 1892, "referenceAllele": "AAC", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713872.1:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713935.1:p.Asn541His", "hgvsWellDefined": "XP_006713935.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070399" }, { "coordinates": [ { "allele": "CAT", "end": 1889, "referenceAllele": "AAC", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_006713873.1:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "XP_006713936.1:p.Asn540His", "hgvsWellDefined": "XP_006713936.1:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070400" }, { "coordinates": [ { "allele": "CAT", "end": 1895, "referenceAllele": "AAC", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513420.1:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "XP_011511722.1:p.Asn542His", "hgvsWellDefined": "XP_011511722.1:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080668" }, { "coordinates": [ { "allele": "CAT", "end": 1892, "referenceAllele": "AAC", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "XM_011513422.1:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "XP_011511724.1:p.Asn541His", "hgvsWellDefined": "XP_011511724.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080669" }, { "@id": "http://reg.genome.network/allele/PA2827937963", "coordinates": [ { "allele": "CAT", "end": 1879, "referenceAllele": "AAC", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.1:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Asn541His", "hgvsWellDefined": "NP_001341738.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522695" }, { "@id": "http://reg.genome.network/allele/PA2827938589", "coordinates": [ { "allele": "CAT", "end": 1879, "referenceAllele": "AAC", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.1:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Asn541His", "hgvsWellDefined": "NP_001341739.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522696" }, { "coordinates": [ { "allele": "CAT", "end": 2027, "referenceAllele": "AAC", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.1:n.2025_2027delinsCAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS531416" }, { "@id": "http://reg.genome.network/allele/PA2827937963", "coordinates": [ { "allele": "CAT", "end": 1898, "referenceAllele": "AAC", "start": 1895 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354809.2:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "NP_001341738.1:p.Asn541His", "hgvsWellDefined": "NP_001341738.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690324" }, { "@id": "http://reg.genome.network/allele/PA2827938589", "coordinates": [ { "allele": "CAT", "end": 1898, "referenceAllele": "AAC", "start": 1895 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001354810.2:c.1621_1623delinsCAT" ], "proteinEffect": { "hgvs": "NP_001341739.1:p.Asn541His", "hgvsWellDefined": "NP_001341739.1:p.Asn541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690325" }, { "coordinates": [ { "allele": "CAT", "end": 2046, "referenceAllele": "AAC", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NR_148971.2:n.2044_2046delinsCAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS704898" }, { "@id": "http://reg.genome.network/allele/PA2825062221", "coordinates": [ { "allele": "CAT", "end": 1895, "referenceAllele": "AAC", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_000142.5:c.1618_1620delinsCAT" ], "proteinEffect": { "hgvs": "NP_000133.1:p.Asn540His", "hgvsWellDefined": "NP_000133.1:p.Asn540His" }, "referenceSequence": "http://reg.genome.network/refseq/RS710802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440486.8:c.1618_1620delinsCAT" }, "RefSeq": { "hgvs": "NM_000142.5:c.1618_1620delinsCAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000414914.2:p.Asn540His" }, "RefSeq": { "hgvs": "NP_000133.1:p.Asn540His" } } } }, { "@id": "http://reg.genome.network/allele/PA2573066335", "coordinates": [ { "allele": "CAT", "end": 1901, "referenceAllele": "AAC", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_001163213.2:c.1624_1626delinsCAT" ], "proteinEffect": { "hgvs": "NP_001156685.1:p.Asn542His", "hgvsWellDefined": "NP_001156685.1:p.Asn542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS713038" }, { "@id": "http://reg.genome.network/allele/PA2830004775", "coordinates": [ { "allele": "CAT", "end": 1559, "referenceAllele": "AAC", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN003690", "geneNCBI_id": 2261, "geneSymbol": "FGFR3", "hgvs": [ "NM_022965.4:c.1282_1284delinsCAT" ], "proteinEffect": { "hgvs": "NP_075254.1:p.Asn428His", "hgvsWellDefined": "NP_075254.1:p.Asn428His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728610" } ], "type": "nucleotide" }