Canonical Allele Identifier: CA2629872640
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152664-G-GGGCGGTGC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGTGCG , CM000677.2:g.80152665_80152666insGCGGTGCG GRCh38
NC_000015.9:g.80445007_80445008insGCGGTGCG , CM000677.1:g.80445007_80445008insGCGGTGCG GRCh37
NC_000015.8:g.78232062_78232063insGCGGTGCG NCBI36
NG_012833.1:g.4667_4668insGCGGTGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+120_-30+121insGCGGTGCG ENSP00000453152.1:n.-30+120_-30+121insGCGGTGCG
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