Canonical Allele Identifier: CA1471368643
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs1720732163

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286567_80286581del , CM000666.2:g.80286567_80286581del GRCh38
NC_000004.11:g.81207721_81207735del , CM000666.1:g.81207721_81207735del GRCh37
NC_000004.10:g.81426745_81426759del NCBI36
NG_029501.1:g.24980_24994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.702_716del MANE Select ENSP00000311697.7:p.Glu235_Pro239del
ENST00000312465.11:c.702_716del ENSP00000311697.7:p.Glu235_Pro239del
ENST00000456523.3:c.*226_*240del ENSP00000398353.3:n.*226_*240del
ENST00000503413.1:n.651_665del
ENST00000507780.1:c.342+11555_342+11569del ENSP00000423903.1:n.342+11555_342+11569del
NM_001291812.1:c.273_287del NP_001278741.1:p.Glu92_Pro96del
NM_004464.3:c.702_716del NP_004455.2:p.Glu235_Pro239del
NM_033143.2:c.*226_*240del NP_149134.1:n.*226_*240del
NM_001291812.2:c.273_287del NP_001278741.1:p.Glu92_Pro96del
NM_004464.4:c.702_716del MANE Select NP_004455.2:p.Glu235_Pro239del