Canonical Allele Identifier: CA2629872876
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152839_80152840del , CM000677.2:g.80152839_80152840del GRCh38
NC_000015.9:g.80445181_80445182del , CM000677.1:g.80445181_80445182del GRCh37
NC_000015.8:g.78232236_78232237del NCBI36
NG_012833.1:g.4841_4842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-216_-215del ENSP00000507680.1:n.-216_-215del
ENST00000261755.9:c.-32_-31del ENSP00000261755.5:n.-32_-31del
ENST00000407106.5:c.-96_-95del ENSP00000385080.1:n.-96_-95del
ENST00000537726.5:n.51_52del
ENST00000558022.5:c.-29-187_-29-186del ENSP00000453152.1:n.-29-187_-29-186del
ENST00000558767.5:n.46_47del
XM_024449872.1:c.-96_-95del XP_024305640.1:n.-96_-95del
NM_001374377.1:c.-96_-95del NP_001361306.1:n.-96_-95del
NM_001374380.1:c.-32_-31del NP_001361309.1:n.-32_-31del