Canonical Allele Identifier: CA2629872647
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152666-A-AGGGGAGGGGGGGTGAGACTGTGGAGGACCTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152670insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG , CM000677.2:g.80152669_80152670insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG GRCh38
NC_000015.9:g.80445011_80445012insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG , CM000677.1:g.80445011_80445012insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG GRCh37
NC_000015.8:g.78232066_78232067insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG NCBI36
NG_012833.1:g.4671_4672insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+125insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG ENSP00000453152.1:n.-30+124_-30+125insGAGGGGGGGTGAGACTGTGGAGG...
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