Canonical Allele Identifier: CA971893582

Gene: FAH

Linked Data

• gnomAD v3: 15-80152613-A-AGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGG
• gnomAD v4: 15-80152613-A-AGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152622_80152655dup , CM000677.2:g.80152622_80152655dup	GRCh38
NC_000015.9:g.80444964_80444997dup , CM000677.1:g.80444964_80444997dup	GRCh37
NC_000015.8:g.78232019_78232052dup	NCBI36
NG_012833.1:g.4624_4657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+77_-30+110dup	ENSP00000453152.1:n.-30+77_-30+110dup