Canonical Allele Identifier: CA2580070685

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1965611
• ClinVar RCV Id: RCV002711230

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804440_1804511del , CM000666.2:g.1804440_1804511del	GRCh38
NC_000004.11:g.1806167_1806238del , CM000666.1:g.1806167_1806238del	GRCh37
NC_000004.10:g.1775965_1776036del	NCBI36
NG_012632.1:g.16129_16200del , LRG_1021:g.16129_16200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1192_1263del	ENSP00000339824.4:p.Cys398_Leu421del
ENST00000260795.8:c.*242_*313del	ENSP00000260795.3:n.*242_*313del
ENST00000352904.6:c.931-384_931-313del	ENSP00000231803.1:n.931-384_931-313del
ENST00000412135.7:c.1174_1245del	ENSP00000412903.3:p.Cys392_Leu415del
ENST00000440486.8:c.1186_1257del MANE Select	ENSP00000414914.2:p.Cys396_Leu419del
ENST00000481110.7:c.1186_1257del	ENSP00000420533.2:p.Cys396_Leu419del
ENST00000643463.1:n.337_408del
ENST00000260795.6:c.1186_1257del	ENSP00000260795.2:p.Cys396_Leu419del
ENST00000340107.8:c.1192_1263del	ENSP00000339824.4:p.Cys398_Leu421del
ENST00000352904.5:c.931-384_931-313del	ENSP00000231803.1:n.931-384_931-313del
ENST00000412135.6:c.931-384_931-313del	ENSP00000412903.2:n.931-384_931-313del
ENST00000440486.6:c.1186_1257del	ENSP00000414914.2:p.Cys396_Leu419del
ENST00000481110.6:c.1186_1257del	ENSP00000420533.2:p.Cys396_Leu419del
ENST00000613647.4:c.*242_*313del	ENSP00000479472.1:n.*242_*313del
NM_000142.4:c.1186_1257del , LRG_1021t1:c.1186_1257del	NP_000133.1:p.Cys396_Leu419del
NM_001163213.1:c.1192_1263del , LRG_1021t2:c.1192_1263del	NP_001156685.1:p.Cys398_Leu421del
NM_022965.3:c.931-384_931-313del	NP_075254.1:n.931-384_931-313del
XM_006713868.1:c.1192_1263del	XP_006713931.1:p.Cys398_Leu421del
XM_006713869.1:c.1192_1263del	XP_006713932.1:p.Cys398_Leu421del
XM_006713870.1:c.1192_1263del	XP_006713933.1:p.Cys398_Leu421del
XM_006713871.1:c.1192_1263del	XP_006713934.1:p.Cys398_Leu421del
XM_006713872.1:c.1186_1257del	XP_006713935.1:p.Cys396_Leu419del
XM_006713873.1:c.1186_1257del	XP_006713936.1:p.Cys396_Leu419del
XM_011513420.1:c.1186_1257del	XP_011511722.1:p.Cys396_Leu419del
XM_011513422.1:c.1186_1257del	XP_011511724.1:p.Cys396_Leu419del
NM_001354809.1:c.1186_1257del	NP_001341738.1:p.Cys396_Leu419del
NM_001354810.1:c.1186_1257del	NP_001341739.1:p.Cys396_Leu419del
NR_148971.1:n.1593_1664del
NM_001354809.2:c.1186_1257del	NP_001341738.1:p.Cys396_Leu419del
NM_001354810.2:c.1186_1257del	NP_001341739.1:p.Cys396_Leu419del
NR_148971.2:n.1612_1683del
NM_000142.5:c.1186_1257del MANE Select	NP_000133.1:p.Cys396_Leu419del
NM_001163213.2:c.1192_1263del	NP_001156685.1:p.Cys398_Leu421del
NM_022965.4:c.931-384_931-313del	NP_075254.1:n.931-384_931-313del