Canonical Allele Identifier: CA971894168

Gene: FAH

Linked Data

• gnomAD v3: 15-80152730-GAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGA-G
• gnomAD v4: 15-80152730-GAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152735_80152800del , CM000677.2:g.80152735_80152800del	GRCh38
NC_000015.9:g.80445077_80445142del , CM000677.1:g.80445077_80445142del	GRCh37
NC_000015.8:g.78232132_78232197del	NCBI36
NG_012833.1:g.4737_4802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+190_-29-226del	ENSP00000453152.1:n.-30+190_-29-226del