Canonical Allele Identifier: CA971893431
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152572-C-CACGGTGAGACCAAAAG
gnomAD v4: 15-80152572-C-CACGGTGAGACCAAAAG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152572_80152573insACGGTGAGACCAAAAG , CM000677.2:g.80152572_80152573insACGGTGAGACCAAAAG GRCh38
NC_000015.9:g.80444914_80444915insACGGTGAGACCAAAAG , CM000677.1:g.80444914_80444915insACGGTGAGACCAAAAG GRCh37
NC_000015.8:g.78231969_78231970insACGGTGAGACCAAAAG NCBI36
NG_012833.1:g.4574_4575insACGGTGAGACCAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+27_-30+28insACGGTGAGACCAAAAG ENSP00000453152.1:n.-30+27_-30+28insACGGTGAGACCAAAAG
Search 100 bp 5'
Search 100 bp 3'