Canonical Allele Identifier: CA16041758
Gene: FAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371201
ClinVar RCV Id: RCV000409747
dbSNP Id: rs1057517084

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80172157del , CM000677.2:g.80172157del GRCh38
NC_000015.9:g.80464499del , CM000677.1:g.80464499del GRCh37
NC_000015.8:g.78251554del NCBI36
NG_012833.1:g.24159del

Transcript Alleles

HGVS Amino-acid change
NM_000137.2:c.615del VV NP_000128.1:p.Phe205LeufsTer2
XM_024449872.1:c.615del XP_024305640.1:p.Phe205LeufsTer2
ENST00000261755.9:c.615del ENSP00000261755.5:p.Phe205LeufsTer2
ENST00000407106.5:c.615del ENSP00000385080.1:p.Phe205LeufsTer2
ENST00000539156.5:c.405del ENSP00000454271.1:p.Phe135LeufsTer2
ENST00000558627.1:n.543del
ENST00000561421.5:c.615del ENSP00000453347.1:p.Phe205LeufsTer2