Canonical Allele Identifier: CA971893791
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152657-C-CGGGG
gnomAD v4: 15-80152657-C-CGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152657_80152658insGGGG , CM000677.2:g.80152657_80152658insGGGG GRCh38
NC_000015.9:g.80444999_80445000insGGGG , CM000677.1:g.80444999_80445000insGGGG GRCh37
NC_000015.8:g.78232054_78232055insGGGG NCBI36
NG_012833.1:g.4659_4660insGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+112_-30+113insGGGG ENSP00000453152.1:n.-30+112_-30+113insGGGG
Search 100 bp 5'
Search 100 bp 3'