Canonical Allele Identifier: CA971893913

Gene: FAH

Linked Data

• dbSNP Id: rs2041058523
• gnomAD v3: 15-80152665-GAGGGT-G
• gnomAD v4: 15-80152665-GAGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152666_80152670del , CM000677.2:g.80152666_80152670del	GRCh38
NC_000015.9:g.80445008_80445012del , CM000677.1:g.80445008_80445012del	GRCh37
NC_000015.8:g.78232063_78232067del	NCBI36
NG_012833.1:g.4668_4672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+121_-30+125del	ENSP00000453152.1:n.-30+121_-30+125del