Canonical Allele Identifier: CA2573130318

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517291del , CM000663.2:g.241517291del	GRCh38
NC_000001.10:g.241680591del , CM000663.1:g.241680591del	GRCh37
NC_000001.9:g.239747214del	NCBI36
NG_012338.1:g.7465del , LRG_504:g.7465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.662del
ENST00000682162.1:c.188del	ENSP00000508203.1:n.188del
ENST00000682567.1:n.236del
ENST00000683521.1:c.159del	ENSP00000506864.1:p.Glu53AspfsTer8
ENST00000684483.1:c.159del	ENSP00000507894.1:p.Glu53AspfsTer8
ENST00000366560.4:c.159del MANE Select	ENSP00000355518.4:p.Glu53AspfsTer8
ENST00000366560.3:c.159del	ENSP00000355518.3:p.Glu53AspfsTer8
ENST00000493477.1:n.272del
NM_000143.3:c.159del , LRG_504t1:c.159del	NP_000134.2:p.Glu53AspfsTer8
XM_011544132.1:c.-70del	XP_011542434.1:n.-70del
XM_011544132.2:c.-70del	XP_011542434.1:n.-70del
NM_000143.4:c.159del MANE Select	NP_000134.2:p.Glu53AspfsTer8