Canonical Allele Identifier: CA2629872613
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152656_80152657insGGAGGGG , CM000677.2:g.80152656_80152657insGGAGGGG GRCh38
NC_000015.9:g.80444998_80444999insGGAGGGG , CM000677.1:g.80444998_80444999insGGAGGGG GRCh37
NC_000015.8:g.78232053_78232054insGGAGGGG NCBI36
NG_012833.1:g.4658_4659insGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+111_-30+112insGGAGGGG ENSP00000453152.1:n.-30+111_-30+112insGGAGGGG