Canonical Allele Identifier: CA2190327056
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152654_80152658delinsGCTCA , CM000677.2:g.80152654_80152658delinsGCTCA GRCh38
NC_000015.9:g.80444996_80445000delinsGCTCA , CM000677.1:g.80444996_80445000delinsGCTCA GRCh37
NC_000015.8:g.78232051_78232055delinsGCTCA NCBI36
NG_012833.1:g.4656_4660delinsGCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+109_-30+113delinsGCTCA ENSP00000453152.1:n.-30+109_-30+113delinsGCTCA