Canonical Allele Identifier: CA2596753496
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152697-G-GGGGA
gnomAD v4: 15-80152697-G-GGGGA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152700_80152701insAGGG , CM000677.2:g.80152700_80152701insAGGG GRCh38
NC_000015.9:g.80445042_80445043insAGGG , CM000677.1:g.80445042_80445043insAGGG GRCh37
NC_000015.8:g.78232097_78232098insAGGG NCBI36
NG_012833.1:g.4702_4703insAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+155_-30+156insAGGG ENSP00000453152.1:n.-30+155_-30+156insAGGG
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