Canonical Allele Identifier: CA2190328283

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153166_80153170delinsGGGGA , CM000677.2:g.80153166_80153170delinsGGGGA	GRCh38
NC_000015.9:g.80445508_80445512delinsGGGGA , CM000677.1:g.80445508_80445512delinsGGGGA	GRCh37
NC_000015.8:g.78232563_78232567delinsGGGGA	NCBI36
NG_012833.1:g.5168_5172delinsGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+31_81+35delinsGGGGA	ENSP00000507680.1:n.81+31_81+35delinsGGGGA
ENST00000682012.1:n.156+31_156+35delinsGGGGA
ENST00000684363.1:c.81+31_81+35delinsGGGGA	ENSP00000507314.1:n.81+31_81+35delinsGGGGA
ENST00000684569.1:n.126+31_126+35delinsGGGGA
ENST00000561421.6:c.81+31_81+35delinsGGGGA MANE Select	ENSP00000453347.2:n.81+31_81+35delinsGGGGA
ENST00000261755.9:c.81+31_81+35delinsGGGGA	ENSP00000261755.5:n.81+31_81+35delinsGGGGA
ENST00000407106.5:c.81+31_81+35delinsGGGGA	ENSP00000385080.1:n.81+31_81+35delinsGGGGA
ENST00000537726.5:n.163+31_163+35delinsGGGGA
ENST00000558022.5:c.81+31_81+35delinsGGGGA	ENSP00000453152.1:n.81+31_81+35delinsGGGGA
ENST00000558767.5:n.342+31_342+35delinsGGGGA
ENST00000561369.1:n.161+31_161+35delinsGGGGA
ENST00000561421.5:c.81+31_81+35delinsGGGGA	ENSP00000453347.1:n.81+31_81+35delinsGGGGA
NM_000137.2:c.81+31_81+35delinsGGGGA	NP_000128.1:n.81+31_81+35delinsGGGGA
XM_024449872.1:c.81+31_81+35delinsGGGGA	XP_024305640.1:n.81+31_81+35delinsGGGGA
NM_000137.4:c.81+31_81+35delinsGGGGA MANE Select	NP_000128.1:n.81+31_81+35delinsGGGGA
NM_001374377.1:c.81+31_81+35delinsGGGGA	NP_001361306.1:n.81+31_81+35delinsGGGGA
NM_001374380.1:c.81+31_81+35delinsGGGGA	NP_001361309.1:n.81+31_81+35delinsGGGGA