Canonical Allele Identifier: CA971893591
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152613-A-AGGCGGGGCGAGGGGGGG
gnomAD v4: 15-80152613-A-AGGCGGGGCGAGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152627_80152628insGGGGGCGGGGCGAGGGG , CM000677.2:g.80152627_80152628insGGGGGCGGGGCGAGGGG GRCh38
NC_000015.9:g.80444969_80444970insGGGGGCGGGGCGAGGGG , CM000677.1:g.80444969_80444970insGGGGGCGGGGCGAGGGG GRCh37
NC_000015.8:g.78232024_78232025insGGGGGCGGGGCGAGGGG NCBI36
NG_012833.1:g.4629_4630insGGGGGCGGGGCGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+82_-30+83insGGGGGCGGGGCGAGGGG ENSP00000453152.1:n.-30+82_-30+83insGGGGGCGGGGCGAGGGG
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Search 100 bp 3'