Canonical Allele Identifier: CA2629872520

Gene: FAH

Linked Data

• gnomAD v4: 15-80152602-TGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152609_80152656del , CM000677.2:g.80152609_80152656del	GRCh38
NC_000015.9:g.80444951_80444998del , CM000677.1:g.80444951_80444998del	GRCh37
NC_000015.8:g.78232006_78232053del	NCBI36
NG_012833.1:g.4611_4658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+64_-30+111del	ENSP00000453152.1:n.-30+64_-30+111del