Canonical Allele Identifier: CA2190327125
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152676delinsGTGAGACT , CM000677.2:g.80152669_80152676delinsGTGAGACT GRCh38
NC_000015.9:g.80445011_80445018delinsGTGAGACT , CM000677.1:g.80445011_80445018delinsGTGAGACT GRCh37
NC_000015.8:g.78232066_78232073delinsGTGAGACT NCBI36
NG_012833.1:g.4671_4678delinsGTGAGACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+131delinsGTGAGACT ENSP00000453152.1:n.-30+124_-30+131delinsGTGAGACT
Search 100 bp 5'
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