Canonical Allele Identifier: CA2586965945

Gene: FGFR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804384_1804392delinsGCAGCTACA , CM000666.2:g.1804384_1804392delinsGCAGCTACA	GRCh38
NC_000004.11:g.1806111_1806119delinsGCAGCTACA , CM000666.1:g.1806111_1806119delinsGCAGCTACA	GRCh37
NC_000004.10:g.1775909_1775917delinsGCAGCTACA	NCBI36
NG_012632.1:g.16073_16081delinsGCAGCTACA , LRG_1021:g.16073_16081delinsGCAGCTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1136_1144delinsGCAGCTACA	ENSP00000339824.4:p.Leu379_Gly382delinsArgSerTyrArg
ENST00000260795.8:c.*186_*194delinsGCAGCTACA	ENSP00000260795.3:n.*186_*194delinsGCAGCTACA
ENST00000352904.6:c.931-440_931-432delinsGCAGCTACA	ENSP00000231803.1:n.931-440_931-432delinsGCAGCTACA
ENST00000412135.7:c.1118_1126delinsGCAGCTACA	ENSP00000412903.3:p.Leu373_Gly376delinsArgSerTyrArg
ENST00000440486.8:c.1130_1138delinsGCAGCTACA MANE Select	ENSP00000414914.2:p.Leu377_Gly380delinsArgSerTyrArg
ENST00000481110.7:c.1130_1138delinsGCAGCTACA	ENSP00000420533.2:p.Leu377_Gly380delinsArgSerTyrArg
ENST00000643463.1:n.281_289delinsGCAGCTACA
ENST00000260795.6:c.1130_1138delinsGCAGCTACA	ENSP00000260795.2:p.Leu377_Gly380delinsArgSerTyrArg
ENST00000340107.8:c.1136_1144delinsGCAGCTACA	ENSP00000339824.4:p.Leu379_Gly382delinsArgSerTyrArg
ENST00000352904.5:c.931-440_931-432delinsGCAGCTACA	ENSP00000231803.1:n.931-440_931-432delinsGCAGCTACA
ENST00000412135.6:c.931-440_931-432delinsGCAGCTACA	ENSP00000412903.2:n.931-440_931-432delinsGCAGCTACA
ENST00000440486.6:c.1130_1138delinsGCAGCTACA	ENSP00000414914.2:p.Leu377_Gly380delinsArgSerTyrArg
ENST00000481110.6:c.1130_1138delinsGCAGCTACA	ENSP00000420533.2:p.Leu377_Gly380delinsArgSerTyrArg
ENST00000613647.4:c.*186_*194delinsGCAGCTACA	ENSP00000479472.1:n.*186_*194delinsGCAGCTACA
NM_000142.4:c.1130_1138delinsGCAGCTACA , LRG_1021t1:c.1130_1138delinsGCAGCTACA	NP_000133.1:p.Leu377_Gly380delinsArgSerTyrArg
NM_001163213.1:c.1136_1144delinsGCAGCTACA , LRG_1021t2:c.1136_1144delinsGCAGCTACA	NP_001156685.1:p.Leu379_Gly382delinsArgSerTyrArg
NM_022965.3:c.931-440_931-432delinsGCAGCTACA	NP_075254.1:n.931-440_931-432delinsGCAGCTACA
XM_006713868.1:c.1136_1144delinsGCAGCTACA	XP_006713931.1:p.Leu379_Gly382delinsArgSerTyrArg
XM_006713869.1:c.1136_1144delinsGCAGCTACA	XP_006713932.1:p.Leu379_Gly382delinsArgSerTyrArg
XM_006713870.1:c.1136_1144delinsGCAGCTACA	XP_006713933.1:p.Leu379_Gly382delinsArgSerTyrArg
XM_006713871.1:c.1136_1144delinsGCAGCTACA	XP_006713934.1:p.Leu379_Gly382delinsArgSerTyrArg
XM_006713872.1:c.1130_1138delinsGCAGCTACA	XP_006713935.1:p.Leu377_Gly380delinsArgSerTyrArg
XM_006713873.1:c.1130_1138delinsGCAGCTACA	XP_006713936.1:p.Leu377_Gly380delinsArgSerTyrArg
XM_011513420.1:c.1130_1138delinsGCAGCTACA	XP_011511722.1:p.Leu377_Gly380delinsArgSerTyrArg
XM_011513422.1:c.1130_1138delinsGCAGCTACA	XP_011511724.1:p.Leu377_Gly380delinsArgSerTyrArg
NM_001354809.1:c.1130_1138delinsGCAGCTACA	NP_001341738.1:p.Leu377_Gly380delinsArgSerTyrArg
NM_001354810.1:c.1130_1138delinsGCAGCTACA	NP_001341739.1:p.Leu377_Gly380delinsArgSerTyrArg
NR_148971.1:n.1537_1545delinsGCAGCTACA
NM_001354809.2:c.1130_1138delinsGCAGCTACA	NP_001341738.1:p.Leu377_Gly380delinsArgSerTyrArg
NM_001354810.2:c.1130_1138delinsGCAGCTACA	NP_001341739.1:p.Leu377_Gly380delinsArgSerTyrArg
NR_148971.2:n.1556_1564delinsGCAGCTACA
NM_000142.5:c.1130_1138delinsGCAGCTACA MANE Select	NP_000133.1:p.Leu377_Gly380delinsArgSerTyrArg
NM_001163213.2:c.1136_1144delinsGCAGCTACA	NP_001156685.1:p.Leu379_Gly382delinsArgSerTyrArg
NM_022965.4:c.931-440_931-432delinsGCAGCTACA	NP_075254.1:n.931-440_931-432delinsGCAGCTACA