Canonical Allele Identifier: CA2669553184

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1804663-T-TGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804663_1804664insGAGC , CM000666.2:g.1804663_1804664insGAGC	GRCh38
NC_000004.11:g.1806390_1806391insGAGC , CM000666.1:g.1806390_1806391insGAGC	GRCh37
NC_000004.10:g.1776188_1776189insGAGC	NCBI36
NG_012632.1:g.16352_16353insGAGC , LRG_1021:g.16352_16353insGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1272+143_1272+144insGAGC	ENSP00000339824.4:n.1272+143_1272+144insGAGC
ENST00000260795.8:c.*322+143_*322+144insGAGC	ENSP00000260795.3:n.*322+143_*322+144insGAGC
ENST00000352904.6:c.931-161_931-160insGAGC	ENSP00000231803.1:n.931-161_931-160insGAGC
ENST00000412135.7:c.1254+143_1254+144insGAGC	ENSP00000412903.3:n.1254+143_1254+144insGAGC
ENST00000440486.8:c.1266+143_1266+144insGAGC MANE Select	ENSP00000414914.2:n.1266+143_1266+144insGAGC
ENST00000481110.7:c.1266+143_1266+144insGAGC	ENSP00000420533.2:n.1266+143_1266+144insGAGC
ENST00000260795.6:c.1266+143_1266+144insGAGC	ENSP00000260795.2:n.1266+143_1266+144insGAGC
ENST00000340107.8:c.1272+143_1272+144insGAGC	ENSP00000339824.4:n.1272+143_1272+144insGAGC
ENST00000352904.5:c.931-161_931-160insGAGC	ENSP00000231803.1:n.931-161_931-160insGAGC
ENST00000412135.6:c.931-161_931-160insGAGC	ENSP00000412903.2:n.931-161_931-160insGAGC
ENST00000440486.6:c.1266+143_1266+144insGAGC	ENSP00000414914.2:n.1266+143_1266+144insGAGC
ENST00000469068.1:n.172_173insGAGC
ENST00000481110.6:c.1266+143_1266+144insGAGC	ENSP00000420533.2:n.1266+143_1266+144insGAGC
ENST00000613647.4:c.*322+143_*322+144insGAGC	ENSP00000479472.1:n.*322+143_*322+144insGAGC
NM_000142.4:c.1266+143_1266+144insGAGC , LRG_1021t1:c.1266+143_1266+144insGAGC	NP_000133.1:n.1266+143_1266+144insGAGC
NM_001163213.1:c.1272+143_1272+144insGAGC , LRG_1021t2:c.1272+143_1272+144insGAGC	NP_001156685.1:n.1272+143_1272+144insGAGC
NM_022965.3:c.931-161_931-160insGAGC	NP_075254.1:n.931-161_931-160insGAGC
XM_006713868.1:c.1278+137_1278+138insGAGC	XP_006713931.1:n.1278+137_1278+138insGAGC
XM_006713869.1:c.1278+137_1278+138insGAGC	XP_006713932.1:n.1278+137_1278+138insGAGC
XM_006713870.1:c.1272+143_1272+144insGAGC	XP_006713933.1:n.1272+143_1272+144insGAGC
XM_006713871.1:c.1272+143_1272+144insGAGC	XP_006713934.1:n.1272+143_1272+144insGAGC
XM_006713872.1:c.1266+143_1266+144insGAGC	XP_006713935.1:n.1266+143_1266+144insGAGC
XM_006713873.1:c.1266+143_1266+144insGAGC	XP_006713936.1:n.1266+143_1266+144insGAGC
XM_011513420.1:c.1272+137_1272+138insGAGC	XP_011511722.1:n.1272+137_1272+138insGAGC
XM_011513422.1:c.1266+143_1266+144insGAGC	XP_011511724.1:n.1266+143_1266+144insGAGC
NM_001354809.1:c.1266+143_1266+144insGAGC	NP_001341738.1:n.1266+143_1266+144insGAGC
NM_001354810.1:c.1266+143_1266+144insGAGC	NP_001341739.1:n.1266+143_1266+144insGAGC
NR_148971.1:n.1673+143_1673+144insGAGC
NM_001354809.2:c.1266+143_1266+144insGAGC	NP_001341738.1:n.1266+143_1266+144insGAGC
NM_001354810.2:c.1266+143_1266+144insGAGC	NP_001341739.1:n.1266+143_1266+144insGAGC
NR_148971.2:n.1692+143_1692+144insGAGC
NM_000142.5:c.1266+143_1266+144insGAGC MANE Select	NP_000133.1:n.1266+143_1266+144insGAGC
NM_001163213.2:c.1272+143_1272+144insGAGC	NP_001156685.1:n.1272+143_1272+144insGAGC
NM_022965.4:c.931-161_931-160insGAGC	NP_075254.1:n.931-161_931-160insGAGC