Canonical Allele Identifier: CA2825001288

Gene: FGFR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805642_1805644delinsCAT , CM000666.2:g.1805642_1805644delinsCAT	GRCh38
NC_000004.11:g.1807369_1807371delinsCAT , CM000666.1:g.1807369_1807371delinsCAT	GRCh37
NC_000004.10:g.1777167_1777169delinsCAT	NCBI36
NG_012632.1:g.17331_17333delinsCAT , LRG_1021:g.17331_17333delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
NM_000142.5:c.1618_1620delinsCAT MANE Select	NP_000133.1:p.Asn540His
ENST00000440486.8:c.1618_1620delinsCAT MANE Select	ENSP00000414914.2:p.Asn540His
NM_000142.4:c.1618_1620delinsCAT , LRG_1021t1:c.1618_1620delinsCAT	NP_000133.1:p.Asn540His
NM_001163213.1:c.1624_1626delinsCAT , LRG_1021t2:c.1624_1626delinsCAT	NP_001156685.1:p.Asn542His
NM_001163213.2:c.1624_1626delinsCAT	NP_001156685.1:p.Asn542His
NM_001354809.1:c.1621_1623delinsCAT	NP_001341738.1:p.Asn541His
NM_001354809.2:c.1621_1623delinsCAT	NP_001341738.1:p.Asn541His
NM_001354810.1:c.1621_1623delinsCAT	NP_001341739.1:p.Asn541His
NM_001354810.2:c.1621_1623delinsCAT	NP_001341739.1:p.Asn541His
NM_022965.3:c.1282_1284delinsCAT	NP_075254.1:p.Asn428His
NM_022965.4:c.1282_1284delinsCAT	NP_075254.1:p.Asn428His
NR_148971.1:n.2025_2027delinsCAT
NR_148971.2:n.2044_2046delinsCAT
ENST00000260795.6:c.1618_1620delinsCAT	ENSP00000260795.2:p.Asn540His
ENST00000260795.8:c.*674_*676delinsCAT	ENSP00000260795.3:n.*674_*676delinsCAT
ENST00000340107.8:c.1624_1626delinsCAT	ENSP00000339824.4:p.Asn542His
ENST00000340107.9:c.1624_1626delinsCAT	ENSP00000339824.4:p.Asn542His
ENST00000352904.5:c.1282_1284delinsCAT	ENSP00000231803.1:p.Asn428His
ENST00000352904.6:c.1282_1284delinsCAT	ENSP00000231803.1:p.Asn428His
ENST00000412135.6:c.1282_1284delinsCAT	ENSP00000412903.2:p.Asn428His
ENST00000412135.7:c.1606_1608delinsCAT	ENSP00000412903.3:p.Asn536His
ENST00000440486.6:c.1618_1620delinsCAT	ENSP00000414914.2:p.Asn540His
ENST00000469068.1:n.684_686delinsCAT
ENST00000481110.6:c.1621_1623delinsCAT	ENSP00000420533.2:p.Asn541His
ENST00000481110.7:c.1621_1623delinsCAT	ENSP00000420533.2:p.Asn541His
ENST00000613647.4:c.*674_*676delinsCAT	ENSP00000479472.1:n.*674_*676delinsCAT
XM_006713868.1:c.1630_1632delinsCAT	XP_006713931.1:p.Asn544His
XM_006713869.1:c.1630_1632delinsCAT	XP_006713932.1:p.Asn544His
XM_006713870.1:c.1627_1629delinsCAT	XP_006713933.1:p.Asn543His
XM_006713871.1:c.1624_1626delinsCAT	XP_006713934.1:p.Asn542His
XM_006713872.1:c.1621_1623delinsCAT	XP_006713935.1:p.Asn541His
XM_006713873.1:c.1618_1620delinsCAT	XP_006713936.1:p.Asn540His
XM_011513420.1:c.1624_1626delinsCAT	XP_011511722.1:p.Asn542His
XM_011513422.1:c.1621_1623delinsCAT	XP_011511724.1:p.Asn541His