Canonical Allele Identifier: CA1471368392
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286409_80286410delinsGA , CM000666.2:g.80286409_80286410delinsGA GRCh38
NC_000004.11:g.81207563_81207564delinsGA , CM000666.1:g.81207563_81207564delinsGA GRCh37
NC_000004.10:g.81426587_81426588delinsGA NCBI36
NG_029501.1:g.24822_24823delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.544_545delinsGA MANE Select ENSP00000311697.7:p.Glu182=
ENST00000312465.11:c.544_545delinsGA ENSP00000311697.7:p.Glu182=
ENST00000456523.3:c.*68_*69delinsGA ENSP00000398353.3:n.*68_*69delinsGA
ENST00000503413.1:n.493_494delinsGA
ENST00000507780.1:c.342+11397_342+11398delinsGA ENSP00000423903.1:n.342+11397_342+11398delinsGA
NM_001291812.1:c.115_116delinsGA NP_001278741.1:p.Glu39=
NM_004464.3:c.544_545delinsGA NP_004455.2:p.Glu182=
NM_033143.2:c.*68_*69delinsGA NP_149134.1:n.*68_*69delinsGA
NM_001291812.2:c.115_116delinsGA NP_001278741.1:p.Glu39=
NM_004464.4:c.544_545delinsGA MANE Select NP_004455.2:p.Glu182=