Canonical Allele Identifier: CA2704953300
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs2108806585

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806079_1806083del , CM000666.2:g.1806079_1806083del GRCh38
NC_000004.11:g.1807806_1807810del , CM000666.1:g.1807806_1807810del GRCh37
NC_000004.10:g.1777604_1777608del NCBI36
NG_012632.1:g.17768_17772del , LRG_1021:g.17768_17772del

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1871_1875del ENSP00000339824.4:p.Asn624ThrfsTer?
ENST00000260795.8:c.*921_*925del ENSP00000260795.3:n.*921_*925del
ENST00000352904.6:c.1529_1533del ENSP00000231803.1:p.Asn510ThrfsTer?
ENST00000412135.7:c.1853_1857del ENSP00000412903.3:p.Asn618ThrfsTer?
ENST00000440486.8:c.1865_1869del MANE Select ENSP00000414914.2:p.Asn622ThrfsTer?
ENST00000481110.7:c.1868_1872del ENSP00000420533.2:p.Asn623ThrfsTer?
ENST00000260795.6:c.1865_1869del ENSP00000260795.2:p.Asn622ThrfsTer?
ENST00000340107.8:c.1871_1875del ENSP00000339824.4:p.Asn624ThrfsTer?
ENST00000352904.5:c.1529_1533del ENSP00000231803.1:p.Asn510ThrfsTer?
ENST00000412135.6:c.1529_1533del ENSP00000412903.2:p.Asn510ThrfsTer?
ENST00000440486.6:c.1865_1869del ENSP00000414914.2:p.Asn622ThrfsTer?
ENST00000481110.6:c.1868_1872del ENSP00000420533.2:p.Asn623ThrfsTer?
ENST00000613647.4:c.*921_*925del ENSP00000479472.1:n.*921_*925del
NM_000142.4:c.1865_1869del , LRG_1021t1:c.1865_1869del NP_000133.1:p.Asn622ThrfsTer?
NM_001163213.1:c.1871_1875del , LRG_1021t2:c.1871_1875del NP_001156685.1:p.Asn624ThrfsTer?
NM_022965.3:c.1529_1533del NP_075254.1:p.Asn510ThrfsTer?
XM_006713868.1:c.1877_1881del XP_006713931.1:p.Asn626ThrfsTer?
XM_006713869.1:c.1877_1881del XP_006713932.1:p.Asn626ThrfsTer?
XM_006713870.1:c.1874_1878del XP_006713933.1:p.Asn625ThrfsTer?
XM_006713871.1:c.1871_1875del XP_006713934.1:p.Asn624ThrfsTer?
XM_006713872.1:c.1868_1872del XP_006713935.1:p.Asn623ThrfsTer?
XM_006713873.1:c.1865_1869del XP_006713936.1:p.Asn622ThrfsTer?
XM_011513420.1:c.1871_1875del XP_011511722.1:p.Asn624ThrfsTer?
XM_011513422.1:c.1868_1872del XP_011511724.1:p.Asn623ThrfsTer?
NM_001354809.1:c.1868_1872del NP_001341738.1:p.Asn623ThrfsTer?
NM_001354810.1:c.1868_1872del NP_001341739.1:p.Asn623ThrfsTer?
NR_148971.1:n.2272_2276del
NM_001354809.2:c.1868_1872del NP_001341738.1:p.Asn623ThrfsTer?
NM_001354810.2:c.1868_1872del NP_001341739.1:p.Asn623ThrfsTer?
NR_148971.2:n.2291_2295del
NM_000142.5:c.1865_1869del MANE Select NP_000133.1:p.Asn622ThrfsTer?
NM_001163213.2:c.1871_1875del NP_001156685.1:p.Asn624ThrfsTer?
NM_022965.4:c.1529_1533del NP_075254.1:p.Asn510ThrfsTer?