Canonical Allele Identifier: CA971892965
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152489-C-CGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT
gnomAD v4: 15-80152489-C-CGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152489_80152490insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT , CM000677.2:g.80152489_80152490insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT GRCh38
NC_000015.9:g.80444831_80444832insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT , CM000677.1:g.80444831_80444832insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT GRCh37
NC_000015.8:g.78231886_78231887insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT NCBI36
NG_012833.1:g.4491_4492insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-85-1_-85insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT ENSP00000453152.1:n.-85-1_-85insGGGCCTGACCACAGCGGCCGAGTTCAGTC...
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