Canonical Allele Identifier: CA2832544442

Gene: FGF5

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286478dup , CM000666.2:g.80286478dup	GRCh38
NC_000004.11:g.81207632dup , CM000666.1:g.81207632dup	GRCh37
NC_000004.10:g.81426656dup	NCBI36
NG_029501.1:g.24891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.613dup MANE Select	ENSP00000311697.7:p.Arg205ProfsTer3
ENST00000312465.11:c.613dup	ENSP00000311697.7:p.Arg205ProfsTer3
ENST00000456523.3:c.*137dup	ENSP00000398353.3:n.*137dup
ENST00000503413.1:n.562dup
ENST00000507780.1:c.342+11466dup	ENSP00000423903.1:n.342+11466dup
NM_001291812.1:c.184dup	NP_001278741.1:p.Arg62ProfsTer3
NM_004464.3:c.613dup	NP_004455.2:p.Arg205ProfsTer3
NM_033143.2:c.*137dup	NP_149134.1:n.*137dup
NM_001291812.2:c.184dup	NP_001278741.1:p.Arg62ProfsTer3
NM_004464.4:c.613dup MANE Select	NP_004455.2:p.Arg205ProfsTer3