Canonical Allele Identifier: CA2629872914

Gene: FAH

Linked Data

• gnomAD v4: 15-80152857-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152860del , CM000677.2:g.80152860del	GRCh38
NC_000015.9:g.80445202del , CM000677.1:g.80445202del	GRCh37
NC_000015.8:g.78232257del	NCBI36
NG_012833.1:g.4862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-195del	ENSP00000507680.1:n.-195del
ENST00000261755.9:c.-30+19del	ENSP00000261755.5:n.-30+19del
ENST00000407106.5:c.-75del	ENSP00000385080.1:n.-75del
ENST00000537726.5:n.53+19del
ENST00000558022.5:c.-29-166del	ENSP00000453152.1:n.-29-166del
ENST00000558767.5:n.67del
ENST00000561369.1:n.6del
XM_024449872.1:c.-75del	XP_024305640.1:n.-75del
NM_001374377.1:c.-75del	NP_001361306.1:n.-75del
NM_001374380.1:c.-30+19del	NP_001361309.1:n.-30+19del