Canonical Allele Identifier: CA2567018510

Gene: FAH

Linked Data

• gnomAD v4: 15-80152616-CGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152622_80152692del , CM000677.2:g.80152622_80152692del	GRCh38
NC_000015.9:g.80444964_80445034del , CM000677.1:g.80444964_80445034del	GRCh37
NC_000015.8:g.78232019_78232089del	NCBI36
NG_012833.1:g.4624_4694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+77_-30+147del	ENSP00000453152.1:n.-30+77_-30+147del