Canonical Allele Identifier: CA1229578841

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504202_241504203delinsAG , CM000663.2:g.241504202_241504203delinsAG	GRCh38
NC_000001.10:g.241667502_241667503delinsAG , CM000663.1:g.241667502_241667503delinsAG	GRCh37
NC_000001.9:g.239734125_239734126delinsAG	NCBI36
NG_012338.1:g.20552_20553delinsCT , LRG_504:g.20552_20553delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1450_1451delinsCT
ENST00000682162.1:c.976_977delinsCT	ENSP00000508203.1:n.976_977delinsCT
ENST00000682567.1:n.1024_1025delinsCT
ENST00000683521.1:c.947_948delinsCT	ENSP00000506864.1:p.Ala316=
ENST00000684161.1:n.2162_2163delinsCT
ENST00000684483.1:c.*343_*344delinsCT	ENSP00000507894.1:n.*343_*344delinsCT
ENST00000366560.4:c.947_948delinsCT MANE Select	ENSP00000355518.4:p.Ala316=
ENST00000366560.3:c.947_948delinsCT	ENSP00000355518.3:p.Ala316=
NM_000143.3:c.947_948delinsCT , LRG_504t1:c.947_948delinsCT	NP_000134.2:p.Ala316=
XM_011544132.1:c.719_720delinsCT	XP_011542434.1:p.Ala240=
XM_011544132.2:c.719_720delinsCT	XP_011542434.1:p.Ala240=
NM_000143.4:c.947_948delinsCT MANE Select	NP_000134.2:p.Ala316=