Canonical Allele Identifier: CA2629872969

Gene: FAH

Linked Data

• gnomAD v4: 15-80152896-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152900del , CM000677.2:g.80152900del	GRCh38
NC_000015.9:g.80445242del , CM000677.1:g.80445242del	GRCh37
NC_000015.8:g.78232297del	NCBI36
NG_012833.1:g.4902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-155del	ENSP00000507680.1:n.-155del
ENST00000261755.9:c.-30+59del	ENSP00000261755.5:n.-30+59del
ENST00000407106.5:c.-35del	ENSP00000385080.1:n.-35del
ENST00000537726.5:n.53+59del
ENST00000558022.5:c.-29-126del	ENSP00000453152.1:n.-29-126del
ENST00000558767.5:n.107del
ENST00000561369.1:n.46del
ENST00000561421.5:c.-155del	ENSP00000453347.1:n.-155del
NM_000137.2:c.-155del	NP_000128.1:n.-155del
XM_024449872.1:c.-35del	XP_024305640.1:n.-35del
NM_001374377.1:c.-35del	NP_001361306.1:n.-35del
NM_001374380.1:c.-30+59del	NP_001361309.1:n.-30+59del