Canonical Allele Identifier: CA971893013
Gene: FAH HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152499_80152582del , CM000677.2:g.80152499_80152582del GRCh38
NC_000015.9:g.80444841_80444924del , CM000677.1:g.80444841_80444924del GRCh37
NC_000015.8:g.78231896_78231979del NCBI36
NG_012833.1:g.4501_4584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-76_-30+37del
Search 100 bp 5'
Search 100 bp 3'