Canonical Allele Identifier: CA2629872690
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152697-GGGGTCGGGGCAAGGGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152701_80152717del , CM000677.2:g.80152701_80152717del GRCh38
NC_000015.9:g.80445043_80445059del , CM000677.1:g.80445043_80445059del GRCh37
NC_000015.8:g.78232098_78232114del NCBI36
NG_012833.1:g.4703_4719del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+156_-30+172del ENSP00000453152.1:n.-30+156_-30+172del
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