Canonical Allele Identifier: CA2629872627
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152660-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152660_80152661insA , CM000677.2:g.80152660_80152661insA GRCh38
NC_000015.9:g.80445002_80445003insA , CM000677.1:g.80445002_80445003insA GRCh37
NC_000015.8:g.78232057_78232058insA NCBI36
NG_012833.1:g.4662_4663insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+115_-30+116insA ENSP00000453152.1:n.-30+115_-30+116insA
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