Canonical Allele Identifier: CA2629872811

Gene: FAH

Linked Data

• gnomAD v4: 15-80152805-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152806del , CM000677.2:g.80152806del	GRCh38
NC_000015.9:g.80445148del , CM000677.1:g.80445148del	GRCh37
NC_000015.8:g.78232203del	NCBI36
NG_012833.1:g.4808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-249del	ENSP00000507680.1:n.-249del
ENST00000261755.9:c.-65del	ENSP00000261755.5:n.-65del
ENST00000407106.5:c.-129del	ENSP00000385080.1:n.-129del
ENST00000537726.5:n.18del
ENST00000558022.5:c.-29-220del	ENSP00000453152.1:n.-29-220del
ENST00000558767.5:n.13del
NM_001374377.1:c.-129del	NP_001361306.1:n.-129del
NM_001374380.1:c.-65del	NP_001361309.1:n.-65del