Canonical Allele Identifier: CA2789256534

Gene: FGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775146del , CM000672.2:g.101775146del	GRCh38
NC_000010.10:g.103534903del , CM000672.1:g.103534903del	GRCh37
NC_000010.9:g.103524893del	NCBI36
NG_007151.1:g.5925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.140del MANE Select	ENSP00000321797.2:p.Gln47ArgfsTer7
ENST00000618991.5:c.-123-267del	ENSP00000484420.1:n.-123-267del
ENST00000344255.8:c.140del	ENSP00000340039.3:p.Gln47ArgfsTer8
ENST00000320185.6:c.140del	ENSP00000321797.2:p.Gln47ArgfsTer7
ENST00000344255.7:c.140del	ENSP00000340039.3:p.Gln47ArgfsTer8
ENST00000346714.7:c.70-267del	ENSP00000344306.3:n.70-267del
ENST00000347978.2:c.70-234del	ENSP00000321945.2:n.70-234del
ENST00000469792.6:c.*154-267del	ENSP00000473299.1:n.*154-267del
ENST00000485728.1:n.33-234del
ENST00000618991.4:c.-123-267del	ENSP00000484420.1:n.-123-267del
NM_001206389.1:c.-123-267del	NP_001193318.1:n.-123-267del
NM_006119.4:c.70-234del	NP_006110.1:n.70-234del
NM_033163.3:c.140del	NP_149353.1:p.Gln47ArgfsTer7
NM_033164.3:c.140del	NP_149354.1:p.Gln47ArgfsTer8
NM_033165.3:c.70-267del	NP_149355.1:n.70-267del
XM_011539509.1:c.79-234del	XP_011537811.1:n.79-234del
NM_006119.5:c.70-234del	NP_006110.1:n.70-234del
NM_033163.4:c.140del	NP_149353.1:p.Gln47ArgfsTer7
NM_033164.4:c.140del	NP_149354.1:p.Gln47ArgfsTer8
NM_033165.4:c.70-267del	NP_149355.1:n.70-267del
NM_001206389.2:c.-123-267del	NP_001193318.1:n.-123-267del
NM_006119.6:c.70-234del	NP_006110.1:n.70-234del
NM_033163.5:c.140del MANE Select	NP_149353.1:p.Gln47ArgfsTer7
NM_033165.5:c.70-267del	NP_149355.1:n.70-267del