Canonical Allele Identifier: CA645570578

Gene: FAH

Linked Data

• COSMIC: COSM5832955

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153057dup , CM000677.2:g.80153057dup	GRCh38
NC_000015.9:g.80445399dup , CM000677.1:g.80445399dup	GRCh37
NC_000015.8:g.78232454dup	NCBI36
NG_012833.1:g.5059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.3dup	ENSP00000507680.1:p.Ser2ValfsTer?
ENST00000682012.1:n.78dup
ENST00000684363.1:c.3dup	ENSP00000507314.1:p.Ser2ValfsTer?
ENST00000684569.1:n.48dup
ENST00000561421.6:c.3dup MANE Select	ENSP00000453347.2:p.Ser2ValfsTer?
ENST00000261755.9:c.3dup	ENSP00000261755.5:p.Ser2ValfsTer?
ENST00000407106.5:c.3dup	ENSP00000385080.1:p.Ser2ValfsTer?
ENST00000537726.5:n.85dup
ENST00000558022.5:c.3dup	ENSP00000453152.1:p.Ser2ValfsTer?
ENST00000558767.5:n.264dup
ENST00000561369.1:n.83dup
ENST00000561421.5:c.3dup	ENSP00000453347.1:p.Ser2ValfsTer?
NM_000137.2:c.3dup	NP_000128.1:p.Ser2ValfsTer?
XM_024449872.1:c.3dup	XP_024305640.1:p.Ser2ValfsTer?
NM_000137.4:c.3dup MANE Select	NP_000128.1:p.Ser2ValfsTer?
NM_001374377.1:c.3dup	NP_001361306.1:p.Ser2ValfsTer?
NM_001374380.1:c.3dup	NP_001361309.1:p.Ser2ValfsTer?