Canonical Allele Identifier: CA1471368485

Gene: FGF5

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286473_80286474delinsGC , CM000666.2:g.80286473_80286474delinsGC	GRCh38
NC_000004.11:g.81207627_81207628delinsGC , CM000666.1:g.81207627_81207628delinsGC	GRCh37
NC_000004.10:g.81426651_81426652delinsGC	NCBI36
NG_029501.1:g.24886_24887delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.608_609delinsGC MANE Select	ENSP00000311697.7:p.Ser203=
ENST00000312465.11:c.608_609delinsGC	ENSP00000311697.7:p.Ser203=
ENST00000456523.3:c.*132_*133delinsGC	ENSP00000398353.3:n.*132_*133delinsGC
ENST00000503413.1:n.557_558delinsGC
ENST00000507780.1:c.342+11461_342+11462delinsGC	ENSP00000423903.1:n.342+11461_342+11462delinsGC
NM_001291812.1:c.179_180delinsGC	NP_001278741.1:p.Ser60=
NM_004464.3:c.608_609delinsGC	NP_004455.2:p.Ser203=
NM_033143.2:c.*132_*133delinsGC	NP_149134.1:n.*132_*133delinsGC
NM_001291812.2:c.179_180delinsGC	NP_001278741.1:p.Ser60=
NM_004464.4:c.608_609delinsGC MANE Select	NP_004455.2:p.Ser203=