Canonical Allele Identifier: CA2596753420

Gene: FAH

Linked Data

• gnomAD v3: 15-80152490-A-AAAAGTCAGGTAGGAGCCTCCGGGGTCCCT
• gnomAD v4: 15-80152490-A-AAAAGTCAGGTAGGAGCCTCCGGGGTCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152490_80152491insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT , CM000677.2:g.80152490_80152491insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT	GRCh38
NC_000015.9:g.80444832_80444833insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT , CM000677.1:g.80444832_80444833insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT	GRCh37
NC_000015.8:g.78231887_78231888insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT	NCBI36
NG_012833.1:g.4492_4493insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT	ENSP00000453152.1:n.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT