Canonical Allele Identifier: CA971893427

Gene: FAH

Linked Data

• gnomAD v3: 15-80152571-G-GTGTT
• gnomAD v4: 15-80152571-G-GTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152571_80152572insTGTT , CM000677.2:g.80152571_80152572insTGTT	GRCh38
NC_000015.9:g.80444913_80444914insTGTT , CM000677.1:g.80444913_80444914insTGTT	GRCh37
NC_000015.8:g.78231968_78231969insTGTT	NCBI36
NG_012833.1:g.4573_4574insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+26_-30+27insTGTT	ENSP00000453152.1:n.-30+26_-30+27insTGTT