Canonical Allele Identifier: CA971893849
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152658-A-ACGAG
gnomAD v4: 15-80152658-A-ACGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152658_80152659insCGAG , CM000677.2:g.80152658_80152659insCGAG GRCh38
NC_000015.9:g.80445000_80445001insCGAG , CM000677.1:g.80445000_80445001insCGAG GRCh37
NC_000015.8:g.78232055_78232056insCGAG NCBI36
NG_012833.1:g.4660_4661insCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+113_-30+114insCGAG ENSP00000453152.1:n.-30+113_-30+114insCGAG
Search 100 bp 5'
Search 100 bp 3'