Canonical Allele Identifier: CA2671179856

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286457-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286459del , CM000666.2:g.80286459del	GRCh38
NC_000004.11:g.81207613del , CM000666.1:g.81207613del	GRCh37
NC_000004.10:g.81426637del	NCBI36
NG_029501.1:g.24872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.594del MANE Select	ENSP00000311697.7:p.Lys199AsnfsTer?
ENST00000312465.11:c.594del	ENSP00000311697.7:p.Lys199AsnfsTer?
ENST00000456523.3:c.*118del	ENSP00000398353.3:n.*118del
ENST00000503413.1:n.543del
ENST00000507780.1:c.342+11447del	ENSP00000423903.1:n.342+11447del
NM_001291812.1:c.165del	NP_001278741.1:p.Lys56AsnfsTer?
NM_004464.3:c.594del	NP_004455.2:p.Lys199AsnfsTer?
NM_033143.2:c.*118del	NP_149134.1:n.*118del
NM_001291812.2:c.165del	NP_001278741.1:p.Lys56AsnfsTer?
NM_004464.4:c.594del MANE Select	NP_004455.2:p.Lys199AsnfsTer?