Canonical Allele Identifier: CA971893187

Gene: FAH

Linked Data

• gnomAD v3: 15-80152514-TGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGG-T
• gnomAD v4: 15-80152514-TGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152519_80152585del , CM000677.2:g.80152519_80152585del	GRCh38
NC_000015.9:g.80444861_80444927del , CM000677.1:g.80444861_80444927del	GRCh37
NC_000015.8:g.78231916_78231982del	NCBI36
NG_012833.1:g.4521_4587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-56_-30+40del