Canonical Allele Identifier: CA971893603
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152613-AGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGG-A
gnomAD v4: 15-80152613-AGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152622_80152724del , CM000677.2:g.80152622_80152724del GRCh38
NC_000015.9:g.80444964_80445066del , CM000677.1:g.80444964_80445066del GRCh37
NC_000015.8:g.78232019_78232121del NCBI36
NG_012833.1:g.4624_4726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+77_-30+179del ENSP00000453152.1:n.-30+77_-30+179del
Search 100 bp 5'
Search 100 bp 3'