Canonical Allele Identifier: CA971893785
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152657-C-CG
gnomAD v4: 15-80152657-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152657_80152658insG , CM000677.2:g.80152657_80152658insG GRCh38
NC_000015.9:g.80444999_80445000insG , CM000677.1:g.80444999_80445000insG GRCh37
NC_000015.8:g.78232054_78232055insG NCBI36
NG_012833.1:g.4659_4660insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+112_-30+113insG ENSP00000453152.1:n.-30+112_-30+113insG
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