Canonical Allele Identifier: CA971893014
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152491-GGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
gnomAD v4: 15-80152491-GGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152499_80152665del , CM000677.2:g.80152499_80152665del GRCh38
NC_000015.9:g.80444841_80445007del , CM000677.1:g.80444841_80445007del GRCh37
NC_000015.8:g.78231896_78232062del NCBI36
NG_012833.1:g.4501_4667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-76_-30+120del
Search 100 bp 5'
Search 100 bp 3'