Canonical Allele Identifier: CA2505768190
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152636_80152637insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC , CM000677.2:g.80152636_80152637insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC GRCh38
NC_000015.9:g.80444978_80444979insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC , CM000677.1:g.80444978_80444979insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC GRCh37
NC_000015.8:g.78232033_78232034insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC NCBI36
NG_012833.1:g.4638_4639insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC

Transcript Alleles

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