Canonical Allele Identifier: CA2190332758

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159828_80159829delinsCT , CM000677.2:g.80159828_80159829delinsCT	GRCh38
NC_000015.9:g.80452170_80452171delinsCT , CM000677.1:g.80452170_80452171delinsCT	GRCh37
NC_000015.8:g.78239225_78239226delinsCT	NCBI36
NG_012833.1:g.11830_11831delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.265_266delinsCT	ENSP00000507680.1:p.Leu89=
ENST00000682012.1:n.340_341delinsCT
ENST00000683593.1:n.142_143delinsCT
ENST00000684363.1:c.265_266delinsCT	ENSP00000507314.1:p.Leu89=
ENST00000684569.1:n.310_311delinsCT
ENST00000561421.6:c.265_266delinsCT MANE Select	ENSP00000453347.2:p.Leu89=
ENST00000646551.1:n.1752_1753delinsCT
ENST00000261755.9:c.265_266delinsCT	ENSP00000261755.5:p.Leu89=
ENST00000407106.5:c.265_266delinsCT	ENSP00000385080.1:p.Leu89=
ENST00000537726.5:n.347_348delinsCT
ENST00000539156.5:c.55_56delinsCT	ENSP00000454271.1:p.Leu19=
ENST00000558022.5:c.265_266delinsCT	ENSP00000453152.1:p.Leu89=
ENST00000558767.5:n.526_527delinsCT
ENST00000561369.1:n.345_346delinsCT
ENST00000561421.5:c.265_266delinsCT	ENSP00000453347.1:p.Leu89=
NM_000137.2:c.265_266delinsCT	NP_000128.1:p.Leu89=
XM_024449872.1:c.265_266delinsCT	XP_024305640.1:p.Leu89=
NM_000137.4:c.265_266delinsCT MANE Select	NP_000128.1:p.Leu89=
NM_001374377.1:c.265_266delinsCT	NP_001361306.1:p.Leu89=
NM_001374380.1:c.265_266delinsCT	NP_001361309.1:p.Leu89=