Canonical Allele Identifier: CA2190333948

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162398_80162399delinsAT , CM000677.2:g.80162398_80162399delinsAT	GRCh38
NC_000015.9:g.80454740_80454741delinsAT , CM000677.1:g.80454740_80454741delinsAT	GRCh37
NC_000015.8:g.78241795_78241796delinsAT	NCBI36
NG_012833.1:g.14400_14401delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*34_*35delinsAT	ENSP00000507680.1:n.*34_*35delinsAT
ENST00000682012.1:n.530+62_530+63delinsAT
ENST00000683593.1:n.2180_2181delinsAT
ENST00000684363.1:c.371_372delinsAT	ENSP00000507314.1:p.Tyr124=
ENST00000684569.1:n.500+62_500+63delinsAT
ENST00000561421.6:c.455+62_455+63delinsAT MANE Select	ENSP00000453347.2:n.455+62_455+63delinsAT
ENST00000646551.1:n.1942+62_1942+63delinsAT
ENST00000261755.9:c.455+62_455+63delinsAT	ENSP00000261755.5:n.455+62_455+63delinsAT
ENST00000407106.5:c.455+62_455+63delinsAT	ENSP00000385080.1:n.455+62_455+63delinsAT
ENST00000537726.5:n.663_664delinsAT
ENST00000539156.5:c.245+62_245+63delinsAT	ENSP00000454271.1:n.245+62_245+63delinsAT
ENST00000558022.5:c.455+62_455+63delinsAT	ENSP00000453152.1:n.455+62_455+63delinsAT
ENST00000558627.1:n.383+62_383+63delinsAT
ENST00000558767.5:n.778_779delinsAT
ENST00000561369.1:n.661_662delinsAT
ENST00000561421.5:c.455+62_455+63delinsAT	ENSP00000453347.1:n.455+62_455+63delinsAT
NM_000137.2:c.455+62_455+63delinsAT	NP_000128.1:n.455+62_455+63delinsAT
XM_024449872.1:c.455+62_455+63delinsAT	XP_024305640.1:n.455+62_455+63delinsAT
NM_000137.4:c.455+62_455+63delinsAT MANE Select	NP_000128.1:n.455+62_455+63delinsAT
NM_001374377.1:c.455+62_455+63delinsAT	NP_001361306.1:n.455+62_455+63delinsAT
NM_001374380.1:c.455+62_455+63delinsAT	NP_001361309.1:n.455+62_455+63delinsAT