Canonical Allele Identifier: CA971893602
Gene: FAH HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152622_80152655del , CM000677.2:g.80152622_80152655del GRCh38
NC_000015.9:g.80444964_80444997del , CM000677.1:g.80444964_80444997del GRCh37
NC_000015.8:g.78232019_78232052del NCBI36
NG_012833.1:g.4624_4657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+77_-30+110del ENSP00000453152.1:n.-30+77_-30+110del
Search 100 bp 5'
Search 100 bp 3'