Canonical Allele Identifier: CA2523886697

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152572_80152573insCGGGCCTGACCACAGCGGCCGAGT , CM000677.2:g.80152572_80152573insCGGGCCTGACCACAGCGGCCGAGT	GRCh38
NC_000015.9:g.80444914_80444915insCGGGCCTGACCACAGCGGCCGAGT , CM000677.1:g.80444914_80444915insCGGGCCTGACCACAGCGGCCGAGT	GRCh37
NC_000015.8:g.78231969_78231970insCGGGCCTGACCACAGCGGCCGAGT	NCBI36
NG_012833.1:g.4574_4575insCGGGCCTGACCACAGCGGCCGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+27_-30+28insCGGGCCTGACCACAGCGGCCGAGT	ENSP00000453152.1:n.-30+27_-30+28insCGGGCCTGACCACAGCGGCCGAGT