Canonical Allele Identifier: CA2629872569
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152636-G-GATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152636_80152637insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT , CM000677.2:g.80152636_80152637insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT GRCh38
NC_000015.9:g.80444978_80444979insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT , CM000677.1:g.80444978_80444979insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT GRCh37
NC_000015.8:g.78232033_78232034insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT NCBI36
NG_012833.1:g.4638_4639insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+91_-30+92insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT ENSP00000453152.1:n.-30+91_-30+92insATGGAGGCTTGTGCCATTTTTCTCT...
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