Canonical Allele Identifier: CA2190328416

Gene: FAH

Linked Data

• dbSNP Id: rs2041068356

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153214_80153215insGTGGAGTGGAGTGGAGTGGGGTGGA , CM000677.2:g.80153214_80153215insGTGGAGTGGAGTGGAGTGGGGTGGA	GRCh38
NC_000015.9:g.80445556_80445557insGTGGAGTGGAGTGGAGTGGGGTGGA , CM000677.1:g.80445556_80445557insGTGGAGTGGAGTGGAGTGGGGTGGA	GRCh37
NC_000015.8:g.78232611_78232612insGTGGAGTGGAGTGGAGTGGGGTGGA	NCBI36
NG_012833.1:g.5216_5217insGTGGAGTGGAGTGGAGTGGGGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000507680.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000682012.1:n.156+79_156+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000684363.1:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000507314.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000684569.1:n.126+79_126+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000561421.6:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA MANE Select	ENSP00000453347.2:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000261755.9:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000261755.5:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000407106.5:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000385080.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000537726.5:n.163+79_163+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000558022.5:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000453152.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000558767.5:n.342+79_342+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000561369.1:n.161+79_161+80insGTGGAGTGGAGTGGAGTGGGGTGGA
ENST00000561421.5:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	ENSP00000453347.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
NM_000137.2:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	NP_000128.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
XM_024449872.1:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	XP_024305640.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
NM_000137.4:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA MANE Select	NP_000128.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
NM_001374377.1:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	NP_001361306.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA
NM_001374380.1:c.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA	NP_001361309.1:n.81+79_81+80insGTGGAGTGGAGTGGAGTGGGGTGGA