Canonical Allele Identifier: CA2190334026

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162544_80162545delinsTC , CM000677.2:g.80162544_80162545delinsTC	GRCh38
NC_000015.9:g.80454886_80454887delinsTC , CM000677.1:g.80454886_80454887delinsTC	GRCh37
NC_000015.8:g.78241941_78241942delinsTC	NCBI36
NG_012833.1:g.14546_14547delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*180_*181delinsTC	ENSP00000507680.1:n.*180_*181delinsTC
ENST00000682012.1:n.530+208_530+209delinsTC
ENST00000683593.1:n.2326_2327delinsTC
ENST00000684363.1:c.517_518delinsTC	ENSP00000507314.1:n.517_518delinsTC
ENST00000684569.1:n.500+208_500+209delinsTC
ENST00000561421.6:c.455+208_455+209delinsTC MANE Select	ENSP00000453347.2:n.455+208_455+209delinsTC
ENST00000646551.1:n.1942+208_1942+209delinsTC
ENST00000261755.9:c.455+208_455+209delinsTC	ENSP00000261755.5:n.455+208_455+209delinsTC
ENST00000407106.5:c.455+208_455+209delinsTC	ENSP00000385080.1:n.455+208_455+209delinsTC
ENST00000537726.5:n.809_810delinsTC
ENST00000539156.5:c.245+208_245+209delinsTC	ENSP00000454271.1:n.245+208_245+209delinsTC
ENST00000558022.5:c.455+208_455+209delinsTC	ENSP00000453152.1:n.455+208_455+209delinsTC
ENST00000558627.1:n.383+208_383+209delinsTC
ENST00000558767.5:n.924_925delinsTC
ENST00000561421.5:c.455+208_455+209delinsTC	ENSP00000453347.1:n.455+208_455+209delinsTC
NM_000137.2:c.455+208_455+209delinsTC	NP_000128.1:n.455+208_455+209delinsTC
XM_024449872.1:c.455+208_455+209delinsTC	XP_024305640.1:n.455+208_455+209delinsTC
NM_000137.4:c.455+208_455+209delinsTC MANE Select	NP_000128.1:n.455+208_455+209delinsTC
NM_001374377.1:c.455+208_455+209delinsTC	NP_001361306.1:n.455+208_455+209delinsTC
NM_001374380.1:c.455+208_455+209delinsTC	NP_001361309.1:n.455+208_455+209delinsTC