Canonical Allele Identifier: CA971893345

Gene: FAH

Linked Data

• gnomAD v3: 15-80152556-CAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCG-C
• gnomAD v4: 15-80152556-CAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152573_80152638del , CM000677.2:g.80152573_80152638del	GRCh38
NC_000015.9:g.80444915_80444980del , CM000677.1:g.80444915_80444980del	GRCh37
NC_000015.8:g.78231970_78232035del	NCBI36
NG_012833.1:g.4575_4640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+28_-30+93del	ENSP00000453152.1:n.-30+28_-30+93del