Canonical Allele Identifier: CA971893949
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041058778
gnomAD v3: 15-80152669-GTGAGACT-G
gnomAD v4: 15-80152669-GTGAGACT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152670_80152676del , CM000677.2:g.80152670_80152676del GRCh38
NC_000015.9:g.80445012_80445018del , CM000677.1:g.80445012_80445018del GRCh37
NC_000015.8:g.78232067_78232073del NCBI36
NG_012833.1:g.4672_4678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+125_-30+131del ENSP00000453152.1:n.-30+125_-30+131del
Search 100 bp 5'
Search 100 bp 3'