Canonical Allele Identifier: CA2190327565

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152870_80152872delinsCGG , CM000677.2:g.80152870_80152872delinsCGG	GRCh38
NC_000015.9:g.80445212_80445214delinsCGG , CM000677.1:g.80445212_80445214delinsCGG	GRCh37
NC_000015.8:g.78232267_78232269delinsCGG	NCBI36
NG_012833.1:g.4872_4874delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-185_-183delinsCGG	ENSP00000507680.1:n.-185_-183delinsCGG
ENST00000261755.9:c.-30+29_-30+31delinsCGG	ENSP00000261755.5:n.-30+29_-30+31delinsCGG
ENST00000407106.5:c.-65_-63delinsCGG	ENSP00000385080.1:n.-65_-63delinsCGG
ENST00000537726.5:n.53+29_53+31delinsCGG
ENST00000558022.5:c.-29-156_-29-154delinsCGG	ENSP00000453152.1:n.-29-156_-29-154delinsCGG
ENST00000558767.5:n.77_79delinsCGG
ENST00000561369.1:n.16_18delinsCGG
XM_024449872.1:c.-65_-63delinsCGG	XP_024305640.1:n.-65_-63delinsCGG
NM_001374377.1:c.-65_-63delinsCGG	NP_001361306.1:n.-65_-63delinsCGG
NM_001374380.1:c.-30+29_-30+31delinsCGG	NP_001361309.1:n.-30+29_-30+31delinsCGG