Canonical Allele Identifier: CA971893365
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152562-AGGG-A
gnomAD v4: 15-80152562-AGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152564_80152566del , CM000677.2:g.80152564_80152566del GRCh38
NC_000015.9:g.80444906_80444908del , CM000677.1:g.80444906_80444908del GRCh37
NC_000015.8:g.78231961_78231963del NCBI36
NG_012833.1:g.4566_4568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+19_-30+21del ENSP00000453152.1:n.-30+19_-30+21del
Search 100 bp 5'
Search 100 bp 3'