Canonical Allele Identifier: CA971893737
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152644-G-GTTC
gnomAD v4: 15-80152644-G-GTTC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152644_80152645insTTC , CM000677.2:g.80152644_80152645insTTC GRCh38
NC_000015.9:g.80444986_80444987insTTC , CM000677.1:g.80444986_80444987insTTC GRCh37
NC_000015.8:g.78232041_78232042insTTC NCBI36
NG_012833.1:g.4646_4647insTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+99_-30+100insTTC ENSP00000453152.1:n.-30+99_-30+100insTTC
Search 100 bp 5'
Search 100 bp 3'