Canonical Allele Identifier: CA2669552997

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1804443-CGCCTGCGCAGCCCCCCCAAGAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804449_1804472del , CM000666.2:g.1804449_1804472del	GRCh38
NC_000004.11:g.1806176_1806199del , CM000666.1:g.1806176_1806199del	GRCh37
NC_000004.10:g.1775974_1775997del	NCBI36
NG_012632.1:g.16138_16161del , LRG_1021:g.16138_16161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1201_1224del	ENSP00000339824.4:p.Arg401_Leu408del
ENST00000260795.8:c.*251_*274del	ENSP00000260795.3:n.*251_*274del
ENST00000352904.6:c.931-375_931-352del	ENSP00000231803.1:n.931-375_931-352del
ENST00000412135.7:c.1183_1206del	ENSP00000412903.3:p.Arg395_Leu402del
ENST00000440486.8:c.1195_1218del MANE Select	ENSP00000414914.2:p.Arg399_Leu406del
ENST00000481110.7:c.1195_1218del	ENSP00000420533.2:p.Arg399_Leu406del
ENST00000643463.1:n.346_369del
ENST00000260795.6:c.1195_1218del	ENSP00000260795.2:p.Arg399_Leu406del
ENST00000340107.8:c.1201_1224del	ENSP00000339824.4:p.Arg401_Leu408del
ENST00000352904.5:c.931-375_931-352del	ENSP00000231803.1:n.931-375_931-352del
ENST00000412135.6:c.931-375_931-352del	ENSP00000412903.2:n.931-375_931-352del
ENST00000440486.6:c.1195_1218del	ENSP00000414914.2:p.Arg399_Leu406del
ENST00000481110.6:c.1195_1218del	ENSP00000420533.2:p.Arg399_Leu406del
ENST00000613647.4:c.*251_*274del	ENSP00000479472.1:n.*251_*274del
NM_000142.4:c.1195_1218del , LRG_1021t1:c.1195_1218del	NP_000133.1:p.Arg399_Leu406del
NM_001163213.1:c.1201_1224del , LRG_1021t2:c.1201_1224del	NP_001156685.1:p.Arg401_Leu408del
NM_022965.3:c.931-375_931-352del	NP_075254.1:n.931-375_931-352del
XM_006713868.1:c.1201_1224del	XP_006713931.1:p.Arg401_Leu408del
XM_006713869.1:c.1201_1224del	XP_006713932.1:p.Arg401_Leu408del
XM_006713870.1:c.1201_1224del	XP_006713933.1:p.Arg401_Leu408del
XM_006713871.1:c.1201_1224del	XP_006713934.1:p.Arg401_Leu408del
XM_006713872.1:c.1195_1218del	XP_006713935.1:p.Arg399_Leu406del
XM_006713873.1:c.1195_1218del	XP_006713936.1:p.Arg399_Leu406del
XM_011513420.1:c.1195_1218del	XP_011511722.1:p.Arg399_Leu406del
XM_011513422.1:c.1195_1218del	XP_011511724.1:p.Arg399_Leu406del
NM_001354809.1:c.1195_1218del	NP_001341738.1:p.Arg399_Leu406del
NM_001354810.1:c.1195_1218del	NP_001341739.1:p.Arg399_Leu406del
NR_148971.1:n.1602_1625del
NM_001354809.2:c.1195_1218del	NP_001341738.1:p.Arg399_Leu406del
NM_001354810.2:c.1195_1218del	NP_001341739.1:p.Arg399_Leu406del
NR_148971.2:n.1621_1644del
NM_000142.5:c.1195_1218del MANE Select	NP_000133.1:p.Arg399_Leu406del
NM_001163213.2:c.1201_1224del	NP_001156685.1:p.Arg401_Leu408del
NM_022965.4:c.931-375_931-352del	NP_075254.1:n.931-375_931-352del