Canonical Allele Identifier: CA2573130207

Gene: FGFR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1806162_1806163delinsCT , CM000666.2:g.1806162_1806163delinsCT	GRCh38
NC_000004.11:g.1807889_1807890delinsCT , CM000666.1:g.1807889_1807890delinsCT	GRCh37
NC_000004.10:g.1777687_1777688delinsCT	NCBI36
NG_012632.1:g.17851_17852delinsCT , LRG_1021:g.17851_17852delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1954_1955delinsCT	ENSP00000339824.4:p.Lys652Leu
ENST00000260795.8:c.*1004_*1005delinsCT	ENSP00000260795.3:n.*1004_*1005delinsCT
ENST00000352904.6:c.1612_1613delinsCT	ENSP00000231803.1:p.Lys538Leu
ENST00000412135.7:c.1936_1937delinsCT	ENSP00000412903.3:p.Lys646Leu
ENST00000440486.8:c.1948_1949delinsCT MANE Select	ENSP00000414914.2:p.Lys650Leu
ENST00000481110.7:c.1951_1952delinsCT	ENSP00000420533.2:p.Lys651Leu
ENST00000260795.6:c.1948_1949delinsCT	ENSP00000260795.2:p.Lys650Leu
ENST00000340107.8:c.1954_1955delinsCT	ENSP00000339824.4:p.Lys652Leu
ENST00000352904.5:c.1612_1613delinsCT	ENSP00000231803.1:p.Lys538Leu
ENST00000412135.6:c.1612_1613delinsCT	ENSP00000412903.2:p.Lys538Leu
ENST00000440486.6:c.1948_1949delinsCT	ENSP00000414914.2:p.Lys650Leu
ENST00000481110.6:c.1951_1952delinsCT	ENSP00000420533.2:p.Lys651Leu
ENST00000613647.4:c.*1004_*1005delinsCT	ENSP00000479472.1:n.*1004_*1005delinsCT
NM_000142.4:c.1948_1949delinsCT , LRG_1021t1:c.1948_1949delinsCT	NP_000133.1:p.Lys650Leu
NM_001163213.1:c.1954_1955delinsCT , LRG_1021t2:c.1954_1955delinsCT	NP_001156685.1:p.Lys652Leu
NM_022965.3:c.1612_1613delinsCT	NP_075254.1:p.Lys538Leu
XM_006713868.1:c.1960_1961delinsCT	XP_006713931.1:p.Lys654Leu
XM_006713869.1:c.1960_1961delinsCT	XP_006713932.1:p.Lys654Leu
XM_006713870.1:c.1957_1958delinsCT	XP_006713933.1:p.Lys653Leu
XM_006713871.1:c.1954_1955delinsCT	XP_006713934.1:p.Lys652Leu
XM_006713872.1:c.1951_1952delinsCT	XP_006713935.1:p.Lys651Leu
XM_006713873.1:c.1948_1949delinsCT	XP_006713936.1:p.Lys650Leu
XM_011513420.1:c.1954_1955delinsCT	XP_011511722.1:p.Lys652Leu
XM_011513422.1:c.1951_1952delinsCT	XP_011511724.1:p.Lys651Leu
NM_001354809.1:c.1951_1952delinsCT	NP_001341738.1:p.Lys651Leu
NM_001354810.1:c.1951_1952delinsCT	NP_001341739.1:p.Lys651Leu
NR_148971.1:n.2355_2356delinsCT
NM_001354809.2:c.1951_1952delinsCT	NP_001341738.1:p.Lys651Leu
NM_001354810.2:c.1951_1952delinsCT	NP_001341739.1:p.Lys651Leu
NR_148971.2:n.2374_2375delinsCT
NM_000142.5:c.1948_1949delinsCT MANE Select	NP_000133.1:p.Lys650Leu
NM_001163213.2:c.1954_1955delinsCT	NP_001156685.1:p.Lys652Leu
NM_022965.4:c.1612_1613delinsCT	NP_075254.1:p.Lys538Leu