Canonical Allele Identifier: CA971892998
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152490-AGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCC-A
gnomAD v4: 15-80152490-AGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152491_80152556del , CM000677.2:g.80152491_80152556del GRCh38
NC_000015.9:g.80444833_80444898del , CM000677.1:g.80444833_80444898del GRCh37
NC_000015.8:g.78231888_78231953del NCBI36
NG_012833.1:g.4493_4558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-84_-30+11del
Search 100 bp 5'
Search 100 bp 3'