Canonical Allele Identifier: CA2629872924

Gene: FAH

Linked Data

• gnomAD v4: 15-80152862-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152863del , CM000677.2:g.80152863del	GRCh38
NC_000015.9:g.80445205del , CM000677.1:g.80445205del	GRCh37
NC_000015.8:g.78232260del	NCBI36
NG_012833.1:g.4865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-192del	ENSP00000507680.1:n.-192del
ENST00000261755.9:c.-30+22del	ENSP00000261755.5:n.-30+22del
ENST00000407106.5:c.-72del	ENSP00000385080.1:n.-72del
ENST00000537726.5:n.53+22del
ENST00000558022.5:c.-29-163del	ENSP00000453152.1:n.-29-163del
ENST00000558767.5:n.70del
ENST00000561369.1:n.9del
XM_024449872.1:c.-72del	XP_024305640.1:n.-72del
NM_001374377.1:c.-72del	NP_001361306.1:n.-72del
NM_001374380.1:c.-30+22del	NP_001361309.1:n.-30+22del