Canonical Allele Identifier: CA2669552705

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1804338-GAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804339_1804372del , CM000666.2:g.1804339_1804372del	GRCh38
NC_000004.11:g.1806066_1806099del , CM000666.1:g.1806066_1806099del	GRCh37
NC_000004.10:g.1775864_1775897del	NCBI36
NG_012632.1:g.16028_16061del , LRG_1021:g.16028_16061del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1091_1124del	ENSP00000339824.4:p.Glu364ValfsTer21
ENST00000260795.8:c.*141_*174del	ENSP00000260795.3:n.*141_*174del
ENST00000352904.6:c.931-485_931-452del	ENSP00000231803.1:n.931-485_931-452del
ENST00000412135.7:c.1073_1106del	ENSP00000412903.3:p.Glu358ValfsTer21
ENST00000440486.8:c.1085_1118del MANE Select	ENSP00000414914.2:p.Glu362ValfsTer21
ENST00000481110.7:c.1085_1118del	ENSP00000420533.2:p.Glu362ValfsTer21
ENST00000643463.1:n.236_269del
ENST00000260795.6:c.1085_1118del	ENSP00000260795.2:p.Glu362ValfsTer21
ENST00000340107.8:c.1091_1124del	ENSP00000339824.4:p.Glu364ValfsTer21
ENST00000352904.5:c.931-485_931-452del	ENSP00000231803.1:n.931-485_931-452del
ENST00000412135.6:c.931-485_931-452del	ENSP00000412903.2:n.931-485_931-452del
ENST00000440486.6:c.1085_1118del	ENSP00000414914.2:p.Glu362ValfsTer21
ENST00000481110.6:c.1085_1118del	ENSP00000420533.2:p.Glu362ValfsTer21
ENST00000613647.4:c.*141_*174del	ENSP00000479472.1:n.*141_*174del
NM_000142.4:c.1085_1118del , LRG_1021t1:c.1085_1118del	NP_000133.1:p.Glu362ValfsTer21
NM_001163213.1:c.1091_1124del , LRG_1021t2:c.1091_1124del	NP_001156685.1:p.Glu364ValfsTer21
NM_022965.3:c.931-485_931-452del	NP_075254.1:n.931-485_931-452del
XM_006713868.1:c.1091_1124del	XP_006713931.1:p.Glu364ValfsTer21
XM_006713869.1:c.1091_1124del	XP_006713932.1:p.Glu364ValfsTer21
XM_006713870.1:c.1091_1124del	XP_006713933.1:p.Glu364ValfsTer21
XM_006713871.1:c.1091_1124del	XP_006713934.1:p.Glu364ValfsTer21
XM_006713872.1:c.1085_1118del	XP_006713935.1:p.Glu362ValfsTer21
XM_006713873.1:c.1085_1118del	XP_006713936.1:p.Glu362ValfsTer21
XM_011513420.1:c.1085_1118del	XP_011511722.1:p.Glu362ValfsTer21
XM_011513422.1:c.1085_1118del	XP_011511724.1:p.Glu362ValfsTer21
NM_001354809.1:c.1085_1118del	NP_001341738.1:p.Glu362ValfsTer21
NM_001354810.1:c.1085_1118del	NP_001341739.1:p.Glu362ValfsTer21
NR_148971.1:n.1492_1525del
NM_001354809.2:c.1085_1118del	NP_001341738.1:p.Glu362ValfsTer21
NM_001354810.2:c.1085_1118del	NP_001341739.1:p.Glu362ValfsTer21
NR_148971.2:n.1511_1544del
NM_000142.5:c.1085_1118del MANE Select	NP_000133.1:p.Glu362ValfsTer21
NM_001163213.2:c.1091_1124del	NP_001156685.1:p.Glu364ValfsTer21
NM_022965.4:c.931-485_931-452del	NP_075254.1:n.931-485_931-452del