Canonical Allele Identifier: CA2629878461
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80162441del , CM000677.2:g.80162441del GRCh38
NC_000015.9:g.80454783del , CM000677.1:g.80454783del GRCh37
NC_000015.8:g.78241838del NCBI36
NG_012833.1:g.14443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.*77del ENSP00000507680.1:n.*77del
ENST00000682012.1:n.530+105del
ENST00000683593.1:n.2223del
ENST00000684363.1:c.414del ENSP00000507314.1:n.414del
ENST00000684569.1:n.500+105del
ENST00000561421.6:c.455+105del MANE Select ENSP00000453347.2:n.455+105del
ENST00000646551.1:n.1942+105del
ENST00000261755.9:c.455+105del ENSP00000261755.5:n.455+105del
ENST00000407106.5:c.455+105del ENSP00000385080.1:n.455+105del
ENST00000537726.5:n.706del
ENST00000539156.5:c.245+105del ENSP00000454271.1:n.245+105del
ENST00000558022.5:c.455+105del ENSP00000453152.1:n.455+105del
ENST00000558627.1:n.383+105del
ENST00000558767.5:n.821del
ENST00000561369.1:n.704del
ENST00000561421.5:c.455+105del ENSP00000453347.1:n.455+105del
NM_000137.2:c.455+105del NP_000128.1:n.455+105del
XM_024449872.1:c.455+105del XP_024305640.1:n.455+105del
NM_000137.4:c.455+105del MANE Select NP_000128.1:n.455+105del
NM_001374377.1:c.455+105del NP_001361306.1:n.455+105del
NM_001374380.1:c.455+105del NP_001361309.1:n.455+105del