Canonical Allele Identifier: CA2524935846

Gene: FAH

Linked Data

• gnomAD v4: 15-80152508-GGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152509_80152556del , CM000677.2:g.80152509_80152556del	GRCh38
NC_000015.9:g.80444851_80444898del , CM000677.1:g.80444851_80444898del	GRCh37
NC_000015.8:g.78231906_78231953del	NCBI36
NG_012833.1:g.4511_4558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-66_-30+11del