Canonical Allele Identifier: CA971893059
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152497-GGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G
gnomAD v4: 15-80152497-GGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152506_80152621del , CM000677.2:g.80152506_80152621del GRCh38
NC_000015.9:g.80444848_80444963del , CM000677.1:g.80444848_80444963del GRCh37
NC_000015.8:g.78231903_78232018del NCBI36
NG_012833.1:g.4508_4623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-69_-30+76del
Search 100 bp 5'
Search 100 bp 3'