Canonical Allele Identifier: CA2629872703

Gene: FAH

Linked Data

• gnomAD v4: 15-80152708-AAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152714_80152779del , CM000677.2:g.80152714_80152779del	GRCh38
NC_000015.9:g.80445056_80445121del , CM000677.1:g.80445056_80445121del	GRCh37
NC_000015.8:g.78232111_78232176del	NCBI36
NG_012833.1:g.4716_4781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+169_-30+234del	ENSP00000453152.1:n.-30+169_-30+234del