Canonical Allele Identifier: CA2629872466
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152551-CGGGCCAGGGGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152555_80152565del , CM000677.2:g.80152555_80152565del GRCh38
NC_000015.9:g.80444897_80444907del , CM000677.1:g.80444897_80444907del GRCh37
NC_000015.8:g.78231952_78231962del NCBI36
NG_012833.1:g.4557_4567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+10_-30+20del ENSP00000453152.1:n.-30+10_-30+20del
Search 100 bp 5'
Search 100 bp 3'