Canonical Allele Identifier: CA1229578893

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504319_241504321delinsCAG , CM000663.2:g.241504319_241504321delinsCAG	GRCh38
NC_000001.10:g.241667619_241667621delinsCAG , CM000663.1:g.241667619_241667621delinsCAG	GRCh37
NC_000001.9:g.239734242_239734244delinsCAG	NCBI36
NG_012338.1:g.20434_20436delinsCTG , LRG_504:g.20434_20436delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-76_1408-74delinsCTG
ENST00000682162.1:c.934-76_934-74delinsCTG	ENSP00000508203.1:n.934-76_934-74delinsCTG
ENST00000682567.1:n.982-76_982-74delinsCTG
ENST00000683521.1:c.905-76_905-74delinsCTG	ENSP00000506864.1:n.905-76_905-74delinsCTG
ENST00000684161.1:n.2120-76_2120-74delinsCTG
ENST00000684483.1:c.*301-76_*301-74delinsCTG	ENSP00000507894.1:n.*301-76_*301-74delinsCTG
ENST00000366560.4:c.905-76_905-74delinsCTG MANE Select	ENSP00000355518.4:n.905-76_905-74delinsCTG
ENST00000366560.3:c.905-76_905-74delinsCTG	ENSP00000355518.3:n.905-76_905-74delinsCTG
NM_000143.3:c.905-76_905-74delinsCTG , LRG_504t1:c.905-76_905-74delinsCTG	NP_000134.2:n.905-76_905-74delinsCTG
XM_011544132.1:c.677-76_677-74delinsCTG	XP_011542434.1:n.677-76_677-74delinsCTG
XM_011544132.2:c.677-76_677-74delinsCTG	XP_011542434.1:n.677-76_677-74delinsCTG
NM_000143.4:c.905-76_905-74delinsCTG MANE Select	NP_000134.2:n.905-76_905-74delinsCTG