Canonical Allele Identifier: CA971893964
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152669-GTGAGACTGTGGAGGACCT-G
gnomAD v4: 15-80152669-GTGAGACTGTGGAGGACCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152670_80152687del , CM000677.2:g.80152670_80152687del GRCh38
NC_000015.9:g.80445012_80445029del , CM000677.1:g.80445012_80445029del GRCh37
NC_000015.8:g.78232067_78232084del NCBI36
NG_012833.1:g.4672_4689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+125_-30+142del ENSP00000453152.1:n.-30+125_-30+142del
Search 100 bp 5'
Search 100 bp 3'