Canonical Allele Identifier: CA1471368515

Gene: FGF5

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286490_80286491delinsCA , CM000666.2:g.80286490_80286491delinsCA	GRCh38
NC_000004.11:g.81207644_81207645delinsCA , CM000666.1:g.81207644_81207645delinsCA	GRCh37
NC_000004.10:g.81426668_81426669delinsCA	NCBI36
NG_029501.1:g.24903_24904delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.625_626delinsCA MANE Select	ENSP00000311697.7:p.Gln209=
ENST00000312465.11:c.625_626delinsCA	ENSP00000311697.7:p.Gln209=
ENST00000456523.3:c.*149_*150delinsCA	ENSP00000398353.3:n.*149_*150delinsCA
ENST00000503413.1:n.574_575delinsCA
ENST00000507780.1:c.342+11478_342+11479delinsCA	ENSP00000423903.1:n.342+11478_342+11479delinsCA
NM_001291812.1:c.196_197delinsCA	NP_001278741.1:p.Gln66=
NM_004464.3:c.625_626delinsCA	NP_004455.2:p.Gln209=
NM_033143.2:c.*149_*150delinsCA	NP_149134.1:n.*149_*150delinsCA
NM_001291812.2:c.196_197delinsCA	NP_001278741.1:p.Gln66=
NM_004464.4:c.625_626delinsCA MANE Select	NP_004455.2:p.Gln209=