Canonical Allele Identifier: CA971893928
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041058586
gnomAD v3: 15-80152666-A-AGGGGGGGGG
gnomAD v4: 15-80152666-A-AGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152670insGGGGGGGGG , CM000677.2:g.80152669_80152670insGGGGGGGGG GRCh38
NC_000015.9:g.80445011_80445012insGGGGGGGGG , CM000677.1:g.80445011_80445012insGGGGGGGGG GRCh37
NC_000015.8:g.78232066_78232067insGGGGGGGGG NCBI36
NG_012833.1:g.4671_4672insGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+125insGGGGGGGGG ENSP00000453152.1:n.-30+124_-30+125insGGGGGGGGG
Search 100 bp 5'
Search 100 bp 3'