Canonical Allele Identifier: CA971894319
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152790_80152791insCTGACC , CM000677.2:g.80152790_80152791insCTGACC GRCh38
NC_000015.9:g.80445132_80445133insCTGACC , CM000677.1:g.80445132_80445133insCTGACC GRCh37
NC_000015.8:g.78232187_78232188insCTGACC NCBI36
NG_012833.1:g.4792_4793insCTGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-145_-144insCTGACC ENSP00000385080.1:n.-145_-144insCTGACC
ENST00000537726.5:n.2_3insCTGACC
ENST00000558022.5:c.-29-236_-29-235insCTGACC ENSP00000453152.1:n.-29-236_-29-235insCTGACC
NM_001374377.1:c.-145_-144insCTGACC NP_001361306.1:n.-145_-144insCTGACC
NM_001374380.1:c.-81_-80insCTGACC NP_001361309.1:n.-81_-80insCTGACC