Canonical Allele Identifier: CA2804915137
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152850dup , CM000677.2:g.80152850dup GRCh38
NC_000015.9:g.80445192dup , CM000677.1:g.80445192dup GRCh37
NC_000015.8:g.78232247dup NCBI36
NG_012833.1:g.4852dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-205dup ENSP00000507680.1:n.-205dup
ENST00000261755.9:c.-30+9dup ENSP00000261755.5:n.-30+9dup
ENST00000407106.5:c.-85dup ENSP00000385080.1:n.-85dup
ENST00000537726.5:n.53+9dup
ENST00000558022.5:c.-29-176dup ENSP00000453152.1:n.-29-176dup
ENST00000558767.5:n.57dup
XM_024449872.1:c.-85dup XP_024305640.1:n.-85dup
NM_001374377.1:c.-85dup NP_001361306.1:n.-85dup
NM_001374380.1:c.-30+9dup NP_001361309.1:n.-30+9dup