Canonical Allele Identifier: CA971894266
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152778-G-GCCTGACCACA
gnomAD v4: 15-80152778-G-GCCTGACCACA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152778_80152779insCCTGACCACA , CM000677.2:g.80152778_80152779insCCTGACCACA GRCh38
NC_000015.9:g.80445120_80445121insCCTGACCACA , CM000677.1:g.80445120_80445121insCCTGACCACA GRCh37
NC_000015.8:g.78232175_78232176insCCTGACCACA NCBI36
NG_012833.1:g.4780_4781insCCTGACCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+233_-30+234insCCTGACCACA ENSP00000453152.1:n.-30+233_-30+234insCCTGACCACA
Search 100 bp 5'
Search 100 bp 3'