Canonical Allele Identifier: CA2671179855

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286452-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286456del , CM000666.2:g.80286456del	GRCh38
NC_000004.11:g.81207610del , CM000666.1:g.81207610del	GRCh37
NC_000004.10:g.81426634del	NCBI36
NG_029501.1:g.24869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.591del MANE Select	ENSP00000311697.7:p.Ala198ProfsTer?
ENST00000312465.11:c.591del	ENSP00000311697.7:p.Ala198ProfsTer?
ENST00000456523.3:c.*115del	ENSP00000398353.3:n.*115del
ENST00000503413.1:n.540del
ENST00000507780.1:c.342+11444del	ENSP00000423903.1:n.342+11444del
NM_001291812.1:c.162del	NP_001278741.1:p.Ala55ProfsTer?
NM_004464.3:c.591del	NP_004455.2:p.Ala198ProfsTer?
NM_033143.2:c.*115del	NP_149134.1:n.*115del
NM_001291812.2:c.162del	NP_001278741.1:p.Ala55ProfsTer?
NM_004464.4:c.591del MANE Select	NP_004455.2:p.Ala198ProfsTer?