Canonical Allele Identifier: CA2804915015
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152566_80152665del , CM000677.2:g.80152566_80152665del GRCh38
NC_000015.9:g.80444908_80445007del , CM000677.1:g.80444908_80445007del GRCh37
NC_000015.8:g.78231963_78232062del NCBI36
NG_012833.1:g.4568_4667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+21_-30+120del ENSP00000453152.1:n.-30+21_-30+120del