Canonical Allele Identifier: CA2804915033
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152614_80152615del , CM000677.2:g.80152614_80152615del GRCh38
NC_000015.9:g.80444956_80444957del , CM000677.1:g.80444956_80444957del GRCh37
NC_000015.8:g.78232011_78232012del NCBI36
NG_012833.1:g.4616_4617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+69_-30+70del ENSP00000453152.1:n.-30+69_-30+70del