Canonical Allele Identifier: CA2190326545

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152495_80152508delinsAGGGGCGGGGCTCG , CM000677.2:g.80152495_80152508delinsAGGGGCGGGGCTCG	GRCh38
NC_000015.9:g.80444837_80444850delinsAGGGGCGGGGCTCG , CM000677.1:g.80444837_80444850delinsAGGGGCGGGGCTCG	GRCh37
NC_000015.8:g.78231892_78231905delinsAGGGGCGGGGCTCG	NCBI36
NG_012833.1:g.4497_4510delinsAGGGGCGGGGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-80_-67delinsAGGGGCGGGGCTCG	ENSP00000453152.1:n.-80_-67delinsAGGGGCGGGGCTCG