Canonical Allele Identifier: CA2804915050
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152637_80152638insTGTTCA , CM000677.2:g.80152637_80152638insTGTTCA GRCh38
NC_000015.9:g.80444979_80444980insTGTTCA , CM000677.1:g.80444979_80444980insTGTTCA GRCh37
NC_000015.8:g.78232034_78232035insTGTTCA NCBI36
NG_012833.1:g.4639_4640insTGTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+92_-30+93insTGTTCA ENSP00000453152.1:n.-30+92_-30+93insTGTTCA