Canonical Allele Identifier: CA2190336535

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168129_80168131delinsGAC , CM000677.2:g.80168129_80168131delinsGAC	GRCh38
NC_000015.9:g.80460471_80460473delinsGAC , CM000677.1:g.80460471_80460473delinsGAC	GRCh37
NC_000015.8:g.78247526_78247528delinsGAC	NCBI36
NG_012833.1:g.20131_20133delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.608_610delinsGAC
ENST00000684569.1:n.578_580delinsGAC
ENST00000561421.6:c.533_535delinsGAC MANE Select	ENSP00000453347.2:p.Gly178=
ENST00000646551.1:n.2160_2162delinsGAC
ENST00000261755.9:c.533_535delinsGAC	ENSP00000261755.5:p.Gly178=
ENST00000407106.5:c.533_535delinsGAC	ENSP00000385080.1:p.Gly178=
ENST00000539156.5:c.323_325delinsGAC	ENSP00000454271.1:p.Gly108=
ENST00000558514.1:n.79_81delinsGAC
ENST00000558627.1:n.461_463delinsGAC
ENST00000561421.5:c.533_535delinsGAC	ENSP00000453347.1:p.Gly178=
NM_000137.2:c.533_535delinsGAC	NP_000128.1:p.Gly178=
XM_024449872.1:c.533_535delinsGAC	XP_024305640.1:p.Gly178=
NM_000137.4:c.533_535delinsGAC MANE Select	NP_000128.1:p.Gly178=
NM_001374377.1:c.533_535delinsGAC	NP_001361306.1:p.Gly178=
NM_001374380.1:c.533_535delinsGAC	NP_001361309.1:p.Gly178=