Canonical Allele Identifier: CA971893695
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152635-G-GGGCGAGGGGAGGGGCGT
gnomAD v4: 15-80152635-G-GGGCGAGGGGAGGGGCGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152651_80152652insTGGCGAGGGGAGGGGCG , CM000677.2:g.80152651_80152652insTGGCGAGGGGAGGGGCG GRCh38
NC_000015.9:g.80444993_80444994insTGGCGAGGGGAGGGGCG , CM000677.1:g.80444993_80444994insTGGCGAGGGGAGGGGCG GRCh37
NC_000015.8:g.78232048_78232049insTGGCGAGGGGAGGGGCG NCBI36
NG_012833.1:g.4653_4654insTGGCGAGGGGAGGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+106_-30+107insTGGCGAGGGGAGGGGCG ENSP00000453152.1:n.-30+106_-30+107insTGGCGAGGGGAGGGGCG
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