Canonical Allele Identifier: CA2671179858

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286577-AAGCCACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286582_80286589del , CM000666.2:g.80286582_80286589del	GRCh38
NC_000004.11:g.81207736_81207743del , CM000666.1:g.81207736_81207743del	GRCh37
NC_000004.10:g.81426760_81426767del	NCBI36
NG_029501.1:g.24995_25002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.717_724del MANE Select	ENSP00000311697.7:p.Pro240TyrfsTer?
ENST00000312465.11:c.717_724del	ENSP00000311697.7:p.Pro240TyrfsTer?
ENST00000456523.3:c.*241_*248del	ENSP00000398353.3:n.*241_*248del
ENST00000503413.1:n.666_673del
ENST00000507780.1:c.342+11570_342+11577del	ENSP00000423903.1:n.342+11570_342+11577del
NM_001291812.1:c.288_295del	NP_001278741.1:p.Pro97TyrfsTer?
NM_004464.3:c.717_724del	NP_004455.2:p.Pro240TyrfsTer?
NM_033143.2:c.*241_*248del	NP_149134.1:n.*241_*248del
NM_001291812.2:c.288_295del	NP_001278741.1:p.Pro97TyrfsTer?
NM_004464.4:c.717_724del MANE Select	NP_004455.2:p.Pro240TyrfsTer?