Canonical Allele Identifier: CA2629872897

Gene: FAH

Linked Data

• gnomAD v4: 15-80152851-AGGGGCAGGGCTCGGGGTTCGGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152856_80152880del , CM000677.2:g.80152856_80152880del	GRCh38
NC_000015.9:g.80445198_80445222del , CM000677.1:g.80445198_80445222del	GRCh37
NC_000015.8:g.78232253_78232277del	NCBI36
NG_012833.1:g.4858_4882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-199_-175del	ENSP00000507680.1:n.-199_-175del
ENST00000261755.9:c.-30+15_-30+39del	ENSP00000261755.5:n.-30+15_-30+39del
ENST00000407106.5:c.-79_-55del	ENSP00000385080.1:n.-79_-55del
ENST00000537726.5:n.53+15_53+39del
ENST00000558022.5:c.-29-170_-29-146del	ENSP00000453152.1:n.-29-170_-29-146del
ENST00000558767.5:n.63_87del
XM_024449872.1:c.-79_-55del	XP_024305640.1:n.-79_-55del
NM_001374377.1:c.-79_-55del	NP_001361306.1:n.-79_-55del
NM_001374380.1:c.-30+15_-30+39del	NP_001361309.1:n.-30+15_-30+39del