Canonical Allele Identifier: CA2629872537
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152632_80152633insAGGGGCGGGGCGAGGGGAGGGG , CM000677.2:g.80152632_80152633insAGGGGCGGGGCGAGGGGAGGGG GRCh38
NC_000015.9:g.80444974_80444975insAGGGGCGGGGCGAGGGGAGGGG , CM000677.1:g.80444974_80444975insAGGGGCGGGGCGAGGGGAGGGG GRCh37
NC_000015.8:g.78232029_78232030insAGGGGCGGGGCGAGGGGAGGGG NCBI36
NG_012833.1:g.4634_4635insAGGGGCGGGGCGAGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+87_-30+88insAGGGGCGGGGCGAGGGGAGGGG ENSP00000453152.1:n.-30+87_-30+88insAGGGGCGGGGCGAGGGGAGGGG