Canonical Allele Identifier: CA2586968554

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500575_241500577del , CM000663.2:g.241500575_241500577del	GRCh38
NC_000001.10:g.241663875_241663877del , CM000663.1:g.241663875_241663877del	GRCh37
NC_000001.9:g.239730498_239730500del	NCBI36
NG_012338.1:g.24178_24180del , LRG_504:g.24178_24180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1753_1755del
ENST00000682162.1:c.1279_1281del	ENSP00000508203.1:n.1279_1281del
ENST00000682567.1:n.4650_4652del
ENST00000683521.1:c.1250_1252del	ENSP00000506864.1:p.Leu417_His418delinsTyr
ENST00000684161.1:n.2465_2467del
ENST00000684483.1:c.*646_*648del	ENSP00000507894.1:n.*646_*648del
ENST00000366560.4:c.1250_1252del MANE Select	ENSP00000355518.4:p.Leu417_His418delinsTyr
ENST00000366560.3:c.1250_1252del	ENSP00000355518.3:p.Leu417_His418delinsTyr
NM_000143.3:c.1250_1252del , LRG_504t1:c.1250_1252del	NP_000134.2:p.Leu417_His418delinsTyr
XM_011544132.1:c.1022_1024del	XP_011542434.1:p.Leu341_His342delinsTyr
XM_011544132.2:c.1022_1024del	XP_011542434.1:p.Leu341_His342delinsTyr
NM_000143.4:c.1250_1252del MANE Select	NP_000134.2:p.Leu417_His418delinsTyr