Canonical Allele Identifier: CA2804915017
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152581_80152586del , CM000677.2:g.80152581_80152586del GRCh38
NC_000015.9:g.80444923_80444928del , CM000677.1:g.80444923_80444928del GRCh37
NC_000015.8:g.78231978_78231983del NCBI36
NG_012833.1:g.4583_4588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+36_-30+41del ENSP00000453152.1:n.-30+36_-30+41del