Canonical Allele Identifier: CA440227675

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207512del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286358del , CM000666.2:g.80286358del	GRCh38
NC_000004.11:g.81207512del , CM000666.1:g.81207512del	GRCh37
NC_000004.10:g.81426536del	NCBI36
NG_029501.1:g.24771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.493del MANE Select	ENSP00000311697.7:p.Arg165ValfsTer28
ENST00000312465.11:c.493del	ENSP00000311697.7:p.Arg165ValfsTer28
ENST00000456523.3:c.*17del	ENSP00000398353.3:n.*17del
ENST00000503413.1:n.442del
ENST00000507780.1:c.342+11346del	ENSP00000423903.1:n.342+11346del
NM_001291812.1:c.64del	NP_001278741.1:p.Arg22ValfsTer28
NM_004464.3:c.493del	NP_004455.2:p.Arg165ValfsTer28
NM_033143.2:c.*17del	NP_149134.1:n.*17del
NM_001291812.2:c.64del	NP_001278741.1:p.Arg22ValfsTer28
NM_004464.4:c.493del MANE Select	NP_004455.2:p.Arg165ValfsTer28