Canonical Allele Identifier: CA2190327127
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152670delinsGT , CM000677.2:g.80152669_80152670delinsGT GRCh38
NC_000015.9:g.80445011_80445012delinsGT , CM000677.1:g.80445011_80445012delinsGT GRCh37
NC_000015.8:g.78232066_78232067delinsGT NCBI36
NG_012833.1:g.4671_4672delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+125delinsGT ENSP00000453152.1:n.-30+124_-30+125delinsGT