Canonical Allele Identifier: CA2190332779

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159859_80159862delinsACAC , CM000677.2:g.80159859_80159862delinsACAC	GRCh38
NC_000015.9:g.80452201_80452204delinsACAC , CM000677.1:g.80452201_80452204delinsACAC	GRCh37
NC_000015.8:g.78239256_78239259delinsACAC	NCBI36
NG_012833.1:g.11861_11864delinsACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.296_299delinsACAC	ENSP00000507680.1:p.Asp99=
ENST00000682012.1:n.371_374delinsACAC
ENST00000683593.1:n.173_176delinsACAC
ENST00000684363.1:c.296_299delinsACAC	ENSP00000507314.1:p.Asp99=
ENST00000684569.1:n.341_344delinsACAC
ENST00000561421.6:c.296_299delinsACAC MANE Select	ENSP00000453347.2:p.Asp99=
ENST00000646551.1:n.1783_1786delinsACAC
ENST00000261755.9:c.296_299delinsACAC	ENSP00000261755.5:p.Asp99=
ENST00000407106.5:c.296_299delinsACAC	ENSP00000385080.1:p.Asp99=
ENST00000537726.5:n.378_381delinsACAC
ENST00000539156.5:c.86_89delinsACAC	ENSP00000454271.1:p.Asp29=
ENST00000558022.5:c.296_299delinsACAC	ENSP00000453152.1:p.Asp99=
ENST00000558767.5:n.557_560delinsACAC
ENST00000561369.1:n.376_379delinsACAC
ENST00000561421.5:c.296_299delinsACAC	ENSP00000453347.1:p.Asp99=
NM_000137.2:c.296_299delinsACAC	NP_000128.1:p.Asp99=
XM_024449872.1:c.296_299delinsACAC	XP_024305640.1:p.Asp99=
NM_000137.4:c.296_299delinsACAC MANE Select	NP_000128.1:p.Asp99=
NM_001374377.1:c.296_299delinsACAC	NP_001361306.1:p.Asp99=
NM_001374380.1:c.296_299delinsACAC	NP_001361309.1:p.Asp99=