Canonical Allele Identifier: CA2629872650
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152667-G-GGGGC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152670insGCGG , CM000677.2:g.80152669_80152670insGCGG GRCh38
NC_000015.9:g.80445011_80445012insGCGG , CM000677.1:g.80445011_80445012insGCGG GRCh37
NC_000015.8:g.78232066_78232067insGCGG NCBI36
NG_012833.1:g.4671_4672insGCGG

Transcript Alleles

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