Canonical Allele Identifier: CA971894253

Gene: FAH

Linked Data

• gnomAD v3: 15-80152773-C-CCGGGCCTGACCA
• gnomAD v4: 15-80152773-C-CCGGGCCTGACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152774_80152775insGGGCCTGACCAC , CM000677.2:g.80152774_80152775insGGGCCTGACCAC	GRCh38
NC_000015.9:g.80445116_80445117insGGGCCTGACCAC , CM000677.1:g.80445116_80445117insGGGCCTGACCAC	GRCh37
NC_000015.8:g.78232171_78232172insGGGCCTGACCAC	NCBI36
NG_012833.1:g.4776_4777insGGGCCTGACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+229_-30+230insGGGCCTGACCAC	ENSP00000453152.1:n.-30+229_-30+230insGGGCCTGACCAC