Canonical Allele Identifier: CA2190328035

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153065_80153066delinsTC , CM000677.2:g.80153065_80153066delinsTC	GRCh38
NC_000015.9:g.80445407_80445408delinsTC , CM000677.1:g.80445407_80445408delinsTC	GRCh37
NC_000015.8:g.78232462_78232463delinsTC	NCBI36
NG_012833.1:g.5067_5068delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.11_12delinsTC	ENSP00000507680.1:p.Ile4=
ENST00000682012.1:n.86_87delinsTC
ENST00000684363.1:c.11_12delinsTC	ENSP00000507314.1:p.Ile4=
ENST00000684569.1:n.56_57delinsTC
ENST00000561421.6:c.11_12delinsTC MANE Select	ENSP00000453347.2:p.Ile4=
ENST00000261755.9:c.11_12delinsTC	ENSP00000261755.5:p.Ile4=
ENST00000407106.5:c.11_12delinsTC	ENSP00000385080.1:p.Ile4=
ENST00000537726.5:n.93_94delinsTC
ENST00000558022.5:c.11_12delinsTC	ENSP00000453152.1:p.Ile4=
ENST00000558767.5:n.272_273delinsTC
ENST00000561369.1:n.91_92delinsTC
ENST00000561421.5:c.11_12delinsTC	ENSP00000453347.1:p.Ile4=
NM_000137.2:c.11_12delinsTC	NP_000128.1:p.Ile4=
XM_024449872.1:c.11_12delinsTC	XP_024305640.1:p.Ile4=
NM_000137.4:c.11_12delinsTC MANE Select	NP_000128.1:p.Ile4=
NM_001374377.1:c.11_12delinsTC	NP_001361306.1:p.Ile4=
NM_001374380.1:c.11_12delinsTC	NP_001361309.1:p.Ile4=