Canonical Allele Identifier: CA2550734211

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504230_241504231insA , CM000663.2:g.241504230_241504231insA	GRCh38
NC_000001.10:g.241667530_241667531insA , CM000663.1:g.241667530_241667531insA	GRCh37
NC_000001.9:g.239734153_239734154insA	NCBI36
NG_012338.1:g.20524_20525insT , LRG_504:g.20524_20525insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1422_1423insT
ENST00000682162.1:c.948_949insT	ENSP00000508203.1:n.948_949insT
ENST00000682567.1:n.996_997insT
ENST00000683521.1:c.919_920insT	ENSP00000506864.1:p.Thr307IlefsTer5
ENST00000684161.1:n.2134_2135insT
ENST00000684483.1:c.*315_*316insT	ENSP00000507894.1:n.*315_*316insT
ENST00000366560.4:c.919_920insT MANE Select	ENSP00000355518.4:p.Thr307IlefsTer5
ENST00000366560.3:c.919_920insT	ENSP00000355518.3:p.Thr307IlefsTer5
NM_000143.3:c.919_920insT , LRG_504t1:c.919_920insT	NP_000134.2:p.Thr307IlefsTer5
XM_011544132.1:c.691_692insT	XP_011542434.1:p.Thr231IlefsTer5
XM_011544132.2:c.691_692insT	XP_011542434.1:p.Thr231IlefsTer5
NM_000143.4:c.919_920insT MANE Select	NP_000134.2:p.Thr307IlefsTer5