Canonical Allele Identifier: CA2190326796
Gene: FAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152581_80152613delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA , CM000677.2:g.80152581_80152613delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA GRCh38
NC_000015.9:g.80444923_80444955delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA , CM000677.1:g.80444923_80444955delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA GRCh37
NC_000015.8:g.78231978_78232010delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA NCBI36
NG_012833.1:g.4583_4615delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+36_-30+68delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA ENSP00000453152.1:n.-30+36_-30+68delinsGGAGGGAGAGACTGGATGACCT...
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