Canonical Allele Identifier: CA2839646102

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180160del , CM000677.2:g.80180160del	GRCh38
NC_000015.9:g.80472502del , CM000677.1:g.80472502del	GRCh37
NC_000015.8:g.78259557del	NCBI36
NG_012833.1:g.32162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1086del
ENST00000561421.6:c.997del MANE Select	ENSP00000453347.2:p.His333ThrfsTer?
ENST00000646551.1:n.2611del
ENST00000261755.9:c.997del	ENSP00000261755.5:p.His333ThrfsTer?
ENST00000407106.5:c.997del	ENSP00000385080.1:p.His333ThrfsTer?
ENST00000539156.5:c.787del	ENSP00000454271.1:p.His263ThrfsTer?
ENST00000559217.1:n.214del
ENST00000561353.2:c.95del
ENST00000561421.5:c.997del	ENSP00000453347.1:p.His333ThrfsTer?
NM_000137.2:c.997del	NP_000128.1:p.His333ThrfsTer?
XM_024449872.1:c.997del	XP_024305640.1:p.His333ThrfsTer?
NM_000137.4:c.997del MANE Select	NP_000128.1:p.His333ThrfsTer?
NM_001374377.1:c.997del	NP_001361306.1:p.His333ThrfsTer?
NM_001374380.1:c.997del	NP_001361309.1:p.His333ThrfsTer?