Canonical Allele Identifier: CA971893725
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152639-GAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA-G
gnomAD v4: 15-80152639-GAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152737del , CM000677.2:g.80152669_80152737del GRCh38
NC_000015.9:g.80445011_80445079del , CM000677.1:g.80445011_80445079del GRCh37
NC_000015.8:g.78232066_78232134del NCBI36
NG_012833.1:g.4671_4739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+192del ENSP00000453152.1:n.-30+124_-30+192del
Search 100 bp 5'
Search 100 bp 3'