Canonical Allele Identifier: CA2669552076

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1803970-C-CGCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803970_1803971insGCTTCT , CM000666.2:g.1803970_1803971insGCTTCT	GRCh38
NC_000004.11:g.1805697_1805698insGCTTCT , CM000666.1:g.1805697_1805698insGCTTCT	GRCh37
NC_000004.10:g.1775495_1775496insGCTTCT	NCBI36
NG_012632.1:g.15659_15660insGCTTCT , LRG_1021:g.15659_15660insGCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1082-360_1082-359insGCTTCT	ENSP00000339824.4:n.1082-360_1082-359insGCTTCT
ENST00000260795.8:c.*131+134_*131+135insGCTTCT	ENSP00000260795.3:n.*131+134_*131+135insGCTTCT
ENST00000352904.6:c.931-854_931-853insGCTTCT	ENSP00000231803.1:n.931-854_931-853insGCTTCT
ENST00000412135.7:c.1063+134_1063+135insGCTTCT	ENSP00000412903.3:n.1063+134_1063+135insGCTTCT
ENST00000440486.8:c.1075+134_1075+135insGCTTCT MANE Select	ENSP00000414914.2:n.1075+134_1075+135insGCTTCT
ENST00000481110.7:c.1075+134_1075+135insGCTTCT	ENSP00000420533.2:n.1075+134_1075+135insGCTTCT
ENST00000643463.1:n.227-360_227-359insGCTTCT
ENST00000260795.6:c.1075+134_1075+135insGCTTCT	ENSP00000260795.2:n.1075+134_1075+135insGCTTCT
ENST00000340107.8:c.1082-360_1082-359insGCTTCT	ENSP00000339824.4:n.1082-360_1082-359insGCTTCT
ENST00000352904.5:c.931-854_931-853insGCTTCT	ENSP00000231803.1:n.931-854_931-853insGCTTCT
ENST00000412135.6:c.931-854_931-853insGCTTCT	ENSP00000412903.2:n.931-854_931-853insGCTTCT
ENST00000440486.6:c.1075+134_1075+135insGCTTCT	ENSP00000414914.2:n.1075+134_1075+135insGCTTCT
ENST00000481110.6:c.1075+134_1075+135insGCTTCT	ENSP00000420533.2:n.1075+134_1075+135insGCTTCT
ENST00000613647.4:c.*131+134_*131+135insGCTTCT	ENSP00000479472.1:n.*131+134_*131+135insGCTTCT
NM_000142.4:c.1075+134_1075+135insGCTTCT , LRG_1021t1:c.1075+134_1075+135insGCTTCT	NP_000133.1:n.1075+134_1075+135insGCTTCT
NM_001163213.1:c.1082-360_1082-359insGCTTCT , LRG_1021t2:c.1082-360_1082-359insGCTTCT	NP_001156685.1:n.1082-360_1082-359insGCTTCT
NM_022965.3:c.931-854_931-853insGCTTCT	NP_075254.1:n.931-854_931-853insGCTTCT
XM_006713868.1:c.1082-360_1082-359insGCTTCT	XP_006713931.1:n.1082-360_1082-359insGCTTCT
XM_006713869.1:c.1082-360_1082-359insGCTTCT	XP_006713932.1:n.1082-360_1082-359insGCTTCT
XM_006713870.1:c.1082-360_1082-359insGCTTCT	XP_006713933.1:n.1082-360_1082-359insGCTTCT
XM_006713871.1:c.1082-360_1082-359insGCTTCT	XP_006713934.1:n.1082-360_1082-359insGCTTCT
XM_006713872.1:c.1075+134_1075+135insGCTTCT	XP_006713935.1:n.1075+134_1075+135insGCTTCT
XM_006713873.1:c.1075+134_1075+135insGCTTCT	XP_006713936.1:n.1075+134_1075+135insGCTTCT
XM_011513420.1:c.1075+134_1075+135insGCTTCT	XP_011511722.1:n.1075+134_1075+135insGCTTCT
XM_011513422.1:c.1075+134_1075+135insGCTTCT	XP_011511724.1:n.1075+134_1075+135insGCTTCT
NM_001354809.1:c.1075+134_1075+135insGCTTCT	NP_001341738.1:n.1075+134_1075+135insGCTTCT
NM_001354810.1:c.1075+134_1075+135insGCTTCT	NP_001341739.1:n.1075+134_1075+135insGCTTCT
NR_148971.1:n.1482+134_1482+135insGCTTCT
NM_001354809.2:c.1075+134_1075+135insGCTTCT	NP_001341738.1:n.1075+134_1075+135insGCTTCT
NM_001354810.2:c.1075+134_1075+135insGCTTCT	NP_001341739.1:n.1075+134_1075+135insGCTTCT
NR_148971.2:n.1501+134_1501+135insGCTTCT
NM_000142.5:c.1075+134_1075+135insGCTTCT MANE Select	NP_000133.1:n.1075+134_1075+135insGCTTCT
NM_001163213.2:c.1082-360_1082-359insGCTTCT	NP_001156685.1:n.1082-360_1082-359insGCTTCT
NM_022965.4:c.931-854_931-853insGCTTCT	NP_075254.1:n.931-854_931-853insGCTTCT