Canonical Allele Identifier: CA2629872468

Gene: FAH

Linked Data

• gnomAD v4: 15-80152551-CGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152556_80152621del , CM000677.2:g.80152556_80152621del	GRCh38
NC_000015.9:g.80444898_80444963del , CM000677.1:g.80444898_80444963del	GRCh37
NC_000015.8:g.78231953_78232018del	NCBI36
NG_012833.1:g.4558_4623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+11_-30+76del	ENSP00000453152.1:n.-30+11_-30+76del