Canonical Allele Identifier: CA2669560531

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1801519-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1801520del , CM000666.2:g.1801520del	GRCh38
NC_000004.11:g.1803247del , CM000666.1:g.1803247del	GRCh37
NC_000004.10:g.1773045del	NCBI36
NG_012632.1:g.13209del , LRG_1021:g.13209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.599del	ENSP00000339824.4:p.Arg200ProfsTer?
ENST00000260795.8:c.599del	ENSP00000260795.3:p.Arg200ProfsTer?
ENST00000352904.6:c.599del	ENSP00000231803.1:p.Arg200ProfsTer?
ENST00000412135.7:c.587del	ENSP00000412903.3:p.Arg196ProfsTer?
ENST00000440486.8:c.599del MANE Select	ENSP00000414914.2:p.Arg200ProfsTer?
ENST00000481110.7:c.599del	ENSP00000420533.2:p.Arg200ProfsTer?
ENST00000260795.6:c.599del	ENSP00000260795.2:p.Arg200ProfsTer?
ENST00000340107.8:c.599del	ENSP00000339824.4:p.Arg200ProfsTer?
ENST00000352904.5:c.599del	ENSP00000231803.1:p.Arg200ProfsTer?
ENST00000412135.6:c.599del	ENSP00000412903.2:p.Arg200ProfsTer?
ENST00000440486.6:c.599del	ENSP00000414914.2:p.Arg200ProfsTer?
ENST00000481110.6:c.599del	ENSP00000420533.2:p.Arg200ProfsTer?
ENST00000507588.1:c.59del	ENSP00000427289.1:p.Arg20ProfsTer?
ENST00000613647.4:c.599del	ENSP00000479472.1:p.Arg200ProfsTer?
NM_000142.4:c.599del , LRG_1021t1:c.599del	NP_000133.1:p.Arg200ProfsTer?
NM_001163213.1:c.599del , LRG_1021t2:c.599del	NP_001156685.1:p.Arg200ProfsTer?
NM_022965.3:c.599del	NP_075254.1:p.Arg200ProfsTer?
XM_006713868.1:c.599del	XP_006713931.1:p.Arg200ProfsTer?
XM_006713869.1:c.599del	XP_006713932.1:p.Arg200ProfsTer?
XM_006713870.1:c.599del	XP_006713933.1:p.Arg200ProfsTer?
XM_006713871.1:c.599del	XP_006713934.1:p.Arg200ProfsTer?
XM_006713872.1:c.599del	XP_006713935.1:p.Arg200ProfsTer?
XM_006713873.1:c.599del	XP_006713936.1:p.Arg200ProfsTer?
XM_011513420.1:c.599del	XP_011511722.1:p.Arg200ProfsTer?
XM_011513422.1:c.599del	XP_011511724.1:p.Arg200ProfsTer?
NM_001354809.1:c.599del	NP_001341738.1:p.Arg200ProfsTer?
NM_001354810.1:c.599del	NP_001341739.1:p.Arg200ProfsTer?
NR_148971.1:n.855del
NM_001354809.2:c.599del	NP_001341738.1:p.Arg200ProfsTer?
NM_001354810.2:c.599del	NP_001341739.1:p.Arg200ProfsTer?
NR_148971.2:n.874del
NM_000142.5:c.599del MANE Select	NP_000133.1:p.Arg200ProfsTer?
NM_001163213.2:c.599del	NP_001156685.1:p.Arg200ProfsTer?
NM_022965.4:c.599del	NP_075254.1:p.Arg200ProfsTer?