Canonical Allele Identifier: CA2586968556

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508699_241508700del , CM000663.2:g.241508699_241508700del	GRCh38
NC_000001.10:g.241671999_241672000del , CM000663.1:g.241671999_241672000del	GRCh37
NC_000001.9:g.239738622_239738623del	NCBI36
NG_012338.1:g.16055_16056del , LRG_504:g.16055_16056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1144_1145del
ENST00000682162.1:c.670_671del	ENSP00000508203.1:n.670_671del
ENST00000682567.1:n.718_719del
ENST00000683521.1:c.641_642del	ENSP00000506864.1:p.Leu214SerfsTer2
ENST00000684161.1:n.1856_1857del
ENST00000684483.1:c.*37_*38del	ENSP00000507894.1:n.*37_*38del
ENST00000366560.4:c.641_642del MANE Select	ENSP00000355518.4:p.Leu214SerfsTer2
ENST00000366560.3:c.641_642del	ENSP00000355518.3:p.Leu214SerfsTer2
NM_000143.3:c.641_642del , LRG_504t1:c.641_642del	NP_000134.2:p.Leu214SerfsTer2
XM_011544132.1:c.413_414del	XP_011542434.1:p.Leu138SerfsTer2
XM_011544132.2:c.413_414del	XP_011542434.1:p.Leu138SerfsTer2
NM_000143.4:c.641_642del MANE Select	NP_000134.2:p.Leu214SerfsTer2