Canonical Allele Identifier: CA16041752
Gene: FAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371526
ClinVar RCV Id: RCV000410365
dbSNP Id: rs1057517341

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80153068del , CM000677.2:g.80153068del GRCh38
NC_000015.9:g.80445410del , CM000677.1:g.80445410del GRCh37
NC_000015.8:g.78232465del NCBI36
NG_012833.1:g.5070del

Transcript Alleles

HGVS Amino-acid change
NM_000137.2:c.14del VV NP_000128.1:p.Pro5ArgfsTer28
XM_024449872.1:c.14del XP_024305640.1:p.Pro5ArgfsTer28
ENST00000261755.9:c.14del ENSP00000261755.5:p.Pro5ArgfsTer28
ENST00000407106.5:c.14del ENSP00000385080.1:p.Pro5ArgfsTer28
ENST00000537726.5:n.96del
ENST00000558022.5:c.14del ENSP00000453152.1:p.Pro5ArgfsTer28
ENST00000558767.5:n.275del
ENST00000561369.1:n.94del
ENST00000561421.5:c.14del ENSP00000453347.1:p.Pro5ArgfsTer28