Canonical Allele Identifier: CA2503092134

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153126del , CM000677.2:g.80153126del	GRCh38
NC_000015.9:g.80445468del , CM000677.1:g.80445468del	GRCh37
NC_000015.8:g.78232523del	NCBI36
NG_012833.1:g.5128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.72del	ENSP00000507680.1:p.Arg25GlufsTer8
ENST00000682012.1:n.147del
ENST00000684363.1:c.72del	ENSP00000507314.1:p.Arg25GlufsTer8
ENST00000684569.1:n.117del
ENST00000561421.6:c.72del MANE Select	ENSP00000453347.2:p.Arg25GlufsTer8
ENST00000261755.9:c.72del	ENSP00000261755.5:p.Arg25GlufsTer8
ENST00000407106.5:c.72del	ENSP00000385080.1:p.Arg25GlufsTer8
ENST00000537726.5:n.154del
ENST00000558022.5:c.72del	ENSP00000453152.1:p.Arg25GlufsTer8
ENST00000558767.5:n.333del
ENST00000561369.1:n.152del
ENST00000561421.5:c.72del	ENSP00000453347.1:p.Arg25GlufsTer8
NM_000137.2:c.72del	NP_000128.1:p.Arg25GlufsTer8
XM_024449872.1:c.72del	XP_024305640.1:p.Arg25GlufsTer8
NM_000137.4:c.72del MANE Select	NP_000128.1:p.Arg25GlufsTer8
NM_001374377.1:c.72del	NP_001361306.1:p.Arg25GlufsTer8
NM_001374380.1:c.72del	NP_001361309.1:p.Arg25GlufsTer8