Canonical Allele Identifier: CA2190327183
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152707_80152712delinsCAAGGG , CM000677.2:g.80152707_80152712delinsCAAGGG GRCh38
NC_000015.9:g.80445049_80445054delinsCAAGGG , CM000677.1:g.80445049_80445054delinsCAAGGG GRCh37
NC_000015.8:g.78232104_78232109delinsCAAGGG NCBI36
NG_012833.1:g.4709_4714delinsCAAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+162_-30+167delinsCAAGGG ENSP00000453152.1:n.-30+162_-30+167delinsCAAGGG