Canonical Allele Identifier: CA2190326573
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152507_80152508delinsCG , CM000677.2:g.80152507_80152508delinsCG GRCh38
NC_000015.9:g.80444849_80444850delinsCG , CM000677.1:g.80444849_80444850delinsCG GRCh37
NC_000015.8:g.78231904_78231905delinsCG NCBI36
NG_012833.1:g.4509_4510delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-68_-67delinsCG ENSP00000453152.1:n.-68_-67delinsCG