Canonical Allele Identifier: CA971893018
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152492-G-GCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC
gnomAD v4: 15-80152492-G-GCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152492_80152493insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC , CM000677.2:g.80152492_80152493insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC GRCh38
NC_000015.9:g.80444834_80444835insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC , CM000677.1:g.80444834_80444835insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC GRCh37
NC_000015.8:g.78231889_78231890insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC NCBI36
NG_012833.1:g.4494_4495insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-83_-82insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC ENSP00000453152.1:n.-83_-82insCCTGACCACAGCGGCCGAGTTCAGTCCTGCT...
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