Canonical Allele Identifier: CA2629872946

Gene: FAH

Linked Data

• gnomAD v4: 15-80152876-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152880del , CM000677.2:g.80152880del	GRCh38
NC_000015.9:g.80445222del , CM000677.1:g.80445222del	GRCh37
NC_000015.8:g.78232277del	NCBI36
NG_012833.1:g.4882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-175del	ENSP00000507680.1:n.-175del
ENST00000261755.9:c.-30+39del	ENSP00000261755.5:n.-30+39del
ENST00000407106.5:c.-55del	ENSP00000385080.1:n.-55del
ENST00000537726.5:n.53+39del
ENST00000558022.5:c.-29-146del	ENSP00000453152.1:n.-29-146del
ENST00000558767.5:n.87del
ENST00000561369.1:n.26del
XM_024449872.1:c.-55del	XP_024305640.1:n.-55del
NM_001374377.1:c.-55del	NP_001361306.1:n.-55del
NM_001374380.1:c.-30+39del	NP_001361309.1:n.-30+39del