Canonical Allele Identifier: CA2629872560
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152647_80152648insTGCGGGGCGAGGGGAGG , CM000677.2:g.80152647_80152648insTGCGGGGCGAGGGGAGG GRCh38
NC_000015.9:g.80444989_80444990insTGCGGGGCGAGGGGAGG , CM000677.1:g.80444989_80444990insTGCGGGGCGAGGGGAGG GRCh37
NC_000015.8:g.78232044_78232045insTGCGGGGCGAGGGGAGG NCBI36
NG_012833.1:g.4649_4650insTGCGGGGCGAGGGGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+102_-30+103insTGCGGGGCGAGGGGAGG ENSP00000453152.1:n.-30+102_-30+103insTGCGGGGCGAGGGGAGG