Canonical Allele Identifier: CA971894095
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152696-CGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACG-C
gnomAD v4: 15-80152696-CGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152701_80152767del , CM000677.2:g.80152701_80152767del GRCh38
NC_000015.9:g.80445043_80445109del , CM000677.1:g.80445043_80445109del GRCh37
NC_000015.8:g.78232098_78232164del NCBI36
NG_012833.1:g.4703_4769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+156_-30+222del ENSP00000453152.1:n.-30+156_-30+222del
Search 100 bp 5'
Search 100 bp 3'