Canonical Allele Identifier: CA2190327111
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152670delinsGAGGGT , CM000677.2:g.80152665_80152670delinsGAGGGT GRCh38
NC_000015.9:g.80445007_80445012delinsGAGGGT , CM000677.1:g.80445007_80445012delinsGAGGGT GRCh37
NC_000015.8:g.78232062_78232067delinsGAGGGT NCBI36
NG_012833.1:g.4667_4672delinsGAGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+120_-30+125delinsGAGGGT ENSP00000453152.1:n.-30+120_-30+125delinsGAGGGT
Search 100 bp 5'
Search 100 bp 3'