Canonical Allele Identifier: CA971893282

Gene: FAH

Linked Data

• gnomAD v3: 15-80152538-ACTCTCGGGTACCC-A
• gnomAD v4: 15-80152538-ACTCTCGGGTACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152539_80152551del , CM000677.2:g.80152539_80152551del	GRCh38
NC_000015.9:g.80444881_80444893del , CM000677.1:g.80444881_80444893del	GRCh37
NC_000015.8:g.78231936_78231948del	NCBI36
NG_012833.1:g.4541_4553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-36_-30+6del