Canonical Allele Identifier: CA2629873059
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152959_80152965del , CM000677.2:g.80152959_80152965del GRCh38
NC_000015.9:g.80445301_80445307del , CM000677.1:g.80445301_80445307del GRCh37
NC_000015.8:g.78232356_78232362del NCBI36
NG_012833.1:g.4961_4967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-96_-90del ENSP00000507680.1:n.-96_-90del
ENST00000261755.9:c.-29-67_-29-61del ENSP00000261755.5:n.-29-67_-29-61del
ENST00000407106.5:c.-30+54_-29-61del ENSP00000385080.1:n.-30+54_-29-61del
ENST00000537726.5:n.54-67_54-61del
ENST00000558022.5:c.-29-67_-29-61del ENSP00000453152.1:n.-29-67_-29-61del
ENST00000558767.5:n.166_172del
ENST00000561369.1:n.51+54_52-61del
ENST00000561421.5:c.-96_-90del ENSP00000453347.1:n.-96_-90del
NM_000137.2:c.-96_-90del NP_000128.1:n.-96_-90del
XM_024449872.1:c.-30+54_-29-61del XP_024305640.1:n.-30+54_-29-61del
NM_001374377.1:c.-30+54_-29-61del NP_001361306.1:n.-30+54_-29-61del
NM_001374380.1:c.-29-67_-29-61del NP_001361309.1:n.-29-67_-29-61del