Canonical Allele Identifier: CA971893648
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152623-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGG-A
gnomAD v4: 15-80152623-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152634_80152856del , CM000677.2:g.80152634_80152856del GRCh38
NC_000015.9:g.80444976_80445198del , CM000677.1:g.80444976_80445198del GRCh37
NC_000015.8:g.78232031_78232253del NCBI36
NG_012833.1:g.4636_4858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+89_-29-170del ENSP00000453152.1:n.-30+89_-29-170del
Search 100 bp 5'
Search 100 bp 3'