Canonical Allele Identifier: CA2629872853
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152831del , CM000677.2:g.80152831del GRCh38
NC_000015.9:g.80445173del , CM000677.1:g.80445173del GRCh37
NC_000015.8:g.78232228del NCBI36
NG_012833.1:g.4833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-224del ENSP00000507680.1:n.-224del
ENST00000261755.9:c.-40del ENSP00000261755.5:n.-40del
ENST00000407106.5:c.-104del ENSP00000385080.1:n.-104del
ENST00000537726.5:n.43del
ENST00000558022.5:c.-29-195del ENSP00000453152.1:n.-29-195del
ENST00000558767.5:n.38del
XM_024449872.1:c.-104del XP_024305640.1:n.-104del
NM_001374377.1:c.-104del NP_001361306.1:n.-104del
NM_001374380.1:c.-40del NP_001361309.1:n.-40del