Canonical Allele Identifier: CA2629872890

Gene: FAH

Linked Data

• gnomAD v4: 15-80152844-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152844_80152845insC , CM000677.2:g.80152844_80152845insC	GRCh38
NC_000015.9:g.80445186_80445187insC , CM000677.1:g.80445186_80445187insC	GRCh37
NC_000015.8:g.78232241_78232242insC	NCBI36
NG_012833.1:g.4846_4847insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-211_-210insC	ENSP00000507680.1:n.-211_-210insC
ENST00000261755.9:c.-30+3_-30+4insC	ENSP00000261755.5:n.-30+3_-30+4insC
ENST00000407106.5:c.-91_-90insC	ENSP00000385080.1:n.-91_-90insC
ENST00000537726.5:n.53+3_53+4insC
ENST00000558022.5:c.-29-182_-29-181insC	ENSP00000453152.1:n.-29-182_-29-181insC
ENST00000558767.5:n.51_52insC
XM_024449872.1:c.-91_-90insC	XP_024305640.1:n.-91_-90insC
NM_001374377.1:c.-91_-90insC	NP_001361306.1:n.-91_-90insC
NM_001374380.1:c.-30+3_-30+4insC	NP_001361309.1:n.-30+3_-30+4insC