Canonical Allele Identifier: CA2804915026
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152597_80152602del , CM000677.2:g.80152597_80152602del GRCh38
NC_000015.9:g.80444939_80444944del , CM000677.1:g.80444939_80444944del GRCh37
NC_000015.8:g.78231994_78231999del NCBI36
NG_012833.1:g.4599_4604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+52_-30+57del ENSP00000453152.1:n.-30+52_-30+57del