Canonical Allele Identifier: CA971893480
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152580-GGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
gnomAD v4: 15-80152580-GGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152583_80152660del , CM000677.2:g.80152583_80152660del GRCh38
NC_000015.9:g.80444925_80445002del , CM000677.1:g.80444925_80445002del GRCh37
NC_000015.8:g.78231980_78232057del NCBI36
NG_012833.1:g.4585_4662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+38_-30+115del ENSP00000453152.1:n.-30+38_-30+115del
Search 100 bp 5'
Search 100 bp 3'