Canonical Allele Identifier: CA2629872752

Gene: FAH

Linked Data

• gnomAD v4: 15-80152765-GGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152773_80152835del , CM000677.2:g.80152773_80152835del	GRCh38
NC_000015.9:g.80445115_80445177del , CM000677.1:g.80445115_80445177del	GRCh37
NC_000015.8:g.78232170_78232232del	NCBI36
NG_012833.1:g.4775_4837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+228_-29-191del	ENSP00000453152.1:n.-30+228_-29-191del