Canonical Allele Identifier: CA971893330
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152551-CGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCG-C
gnomAD v4: 15-80152551-CGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152562_80152779del , CM000677.2:g.80152562_80152779del GRCh38
NC_000015.9:g.80444904_80445121del , CM000677.1:g.80444904_80445121del GRCh37
NC_000015.8:g.78231959_78232176del NCBI36
NG_012833.1:g.4564_4781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+17_-30+234del ENSP00000453152.1:n.-30+17_-30+234del
Search 100 bp 5'
Search 100 bp 3'