Canonical Allele Identifier: CA2669554045

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1806070-CTGCCCGCAATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1806074_1806084del , CM000666.2:g.1806074_1806084del	GRCh38
NC_000004.11:g.1807801_1807811del , CM000666.1:g.1807801_1807811del	GRCh37
NC_000004.10:g.1777599_1777609del	NCBI36
NG_012632.1:g.17763_17773del , LRG_1021:g.17763_17773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1866_1876del	ENSP00000339824.4:p.Arg623GlyfsTer?
ENST00000260795.8:c.*916_*926del	ENSP00000260795.3:n.*916_*926del
ENST00000352904.6:c.1524_1534del	ENSP00000231803.1:p.Arg509GlyfsTer?
ENST00000412135.7:c.1848_1858del	ENSP00000412903.3:p.Arg617GlyfsTer?
ENST00000440486.8:c.1860_1870del MANE Select	ENSP00000414914.2:p.Arg621GlyfsTer?
ENST00000481110.7:c.1863_1873del	ENSP00000420533.2:p.Arg622GlyfsTer?
ENST00000260795.6:c.1860_1870del	ENSP00000260795.2:p.Arg621GlyfsTer?
ENST00000340107.8:c.1866_1876del	ENSP00000339824.4:p.Arg623GlyfsTer?
ENST00000352904.5:c.1524_1534del	ENSP00000231803.1:p.Arg509GlyfsTer?
ENST00000412135.6:c.1524_1534del	ENSP00000412903.2:p.Arg509GlyfsTer?
ENST00000440486.6:c.1860_1870del	ENSP00000414914.2:p.Arg621GlyfsTer?
ENST00000481110.6:c.1863_1873del	ENSP00000420533.2:p.Arg622GlyfsTer?
ENST00000613647.4:c.*916_*926del	ENSP00000479472.1:n.*916_*926del
NM_000142.4:c.1860_1870del , LRG_1021t1:c.1860_1870del	NP_000133.1:p.Arg621GlyfsTer?
NM_001163213.1:c.1866_1876del , LRG_1021t2:c.1866_1876del	NP_001156685.1:p.Arg623GlyfsTer?
NM_022965.3:c.1524_1534del	NP_075254.1:p.Arg509GlyfsTer?
XM_006713868.1:c.1872_1882del	XP_006713931.1:p.Arg625GlyfsTer?
XM_006713869.1:c.1872_1882del	XP_006713932.1:p.Arg625GlyfsTer?
XM_006713870.1:c.1869_1879del	XP_006713933.1:p.Arg624GlyfsTer?
XM_006713871.1:c.1866_1876del	XP_006713934.1:p.Arg623GlyfsTer?
XM_006713872.1:c.1863_1873del	XP_006713935.1:p.Arg622GlyfsTer?
XM_006713873.1:c.1860_1870del	XP_006713936.1:p.Arg621GlyfsTer?
XM_011513420.1:c.1866_1876del	XP_011511722.1:p.Arg623GlyfsTer?
XM_011513422.1:c.1863_1873del	XP_011511724.1:p.Arg622GlyfsTer?
NM_001354809.1:c.1863_1873del	NP_001341738.1:p.Arg622GlyfsTer?
NM_001354810.1:c.1863_1873del	NP_001341739.1:p.Arg622GlyfsTer?
NR_148971.1:n.2267_2277del
NM_001354809.2:c.1863_1873del	NP_001341738.1:p.Arg622GlyfsTer?
NM_001354810.2:c.1863_1873del	NP_001341739.1:p.Arg622GlyfsTer?
NR_148971.2:n.2286_2296del
NM_000142.5:c.1860_1870del MANE Select	NP_000133.1:p.Arg621GlyfsTer?
NM_001163213.2:c.1866_1876del	NP_001156685.1:p.Arg623GlyfsTer?
NM_022965.4:c.1524_1534del	NP_075254.1:p.Arg509GlyfsTer?