Canonical Allele Identifier: CA2190333964

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162419_80162422delinsGTTC , CM000677.2:g.80162419_80162422delinsGTTC	GRCh38
NC_000015.9:g.80454761_80454764delinsGTTC , CM000677.1:g.80454761_80454764delinsGTTC	GRCh37
NC_000015.8:g.78241816_78241819delinsGTTC	NCBI36
NG_012833.1:g.14421_14424delinsGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*55_*58delinsGTTC	ENSP00000507680.1:n.*55_*58delinsGTTC
ENST00000682012.1:n.530+83_530+86delinsGTTC
ENST00000683593.1:n.2201_2204delinsGTTC
ENST00000684363.1:c.392_395delinsGTTC	ENSP00000507314.1:p.Ser131=
ENST00000684569.1:n.500+83_500+86delinsGTTC
ENST00000561421.6:c.455+83_455+86delinsGTTC MANE Select	ENSP00000453347.2:n.455+83_455+86delinsGTTC
ENST00000646551.1:n.1942+83_1942+86delinsGTTC
ENST00000261755.9:c.455+83_455+86delinsGTTC	ENSP00000261755.5:n.455+83_455+86delinsGTTC
ENST00000407106.5:c.455+83_455+86delinsGTTC	ENSP00000385080.1:n.455+83_455+86delinsGTTC
ENST00000537726.5:n.684_687delinsGTTC
ENST00000539156.5:c.245+83_245+86delinsGTTC	ENSP00000454271.1:n.245+83_245+86delinsGTTC
ENST00000558022.5:c.455+83_455+86delinsGTTC	ENSP00000453152.1:n.455+83_455+86delinsGTTC
ENST00000558627.1:n.383+83_383+86delinsGTTC
ENST00000558767.5:n.799_802delinsGTTC
ENST00000561369.1:n.682_685delinsGTTC
ENST00000561421.5:c.455+83_455+86delinsGTTC	ENSP00000453347.1:n.455+83_455+86delinsGTTC
NM_000137.2:c.455+83_455+86delinsGTTC	NP_000128.1:n.455+83_455+86delinsGTTC
XM_024449872.1:c.455+83_455+86delinsGTTC	XP_024305640.1:n.455+83_455+86delinsGTTC
NM_000137.4:c.455+83_455+86delinsGTTC MANE Select	NP_000128.1:n.455+83_455+86delinsGTTC
NM_001374377.1:c.455+83_455+86delinsGTTC	NP_001361306.1:n.455+83_455+86delinsGTTC
NM_001374380.1:c.455+83_455+86delinsGTTC	NP_001361309.1:n.455+83_455+86delinsGTTC