Canonical Allele Identifier: CA2586968572

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517271del , CM000663.2:g.241517271del	GRCh38
NC_000001.10:g.241680571del , CM000663.1:g.241680571del	GRCh37
NC_000001.9:g.239747194del	NCBI36
NG_012338.1:g.7484del , LRG_504:g.7484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.681del
ENST00000682162.1:c.207del	ENSP00000508203.1:n.207del
ENST00000682567.1:n.255del
ENST00000683521.1:c.178del	ENSP00000506864.1:p.Leu60Ter
ENST00000684483.1:c.178del	ENSP00000507894.1:p.Leu60Ter
ENST00000366560.4:c.178del MANE Select	ENSP00000355518.4:p.Leu60Ter
ENST00000366560.3:c.178del	ENSP00000355518.3:p.Leu60Ter
ENST00000493477.1:n.291del
NM_000143.3:c.178del , LRG_504t1:c.178del	NP_000134.2:p.Leu60Ter
XM_011544132.1:c.-51del	XP_011542434.1:n.-51del
XM_011544132.2:c.-51del	XP_011542434.1:n.-51del
NM_000143.4:c.178del MANE Select	NP_000134.2:p.Leu60Ter