Canonical Allele Identifier: CA2586968551

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508647del , CM000663.2:g.241508647del	GRCh38
NC_000001.10:g.241671947del , CM000663.1:g.241671947del	GRCh37
NC_000001.9:g.239738570del	NCBI36
NG_012338.1:g.16109del , LRG_504:g.16109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1198del
ENST00000682162.1:c.724del	ENSP00000508203.1:n.724del
ENST00000682567.1:n.772del
ENST00000683521.1:c.695del	ENSP00000506864.1:p.Gly232AspfsTer24
ENST00000684161.1:n.1910del
ENST00000684483.1:c.*91del	ENSP00000507894.1:n.*91del
ENST00000366560.4:c.695del MANE Select	ENSP00000355518.4:p.Gly232AspfsTer24
ENST00000366560.3:c.695del	ENSP00000355518.3:p.Gly232AspfsTer24
NM_000143.3:c.695del , LRG_504t1:c.695del	NP_000134.2:p.Gly232AspfsTer24
XM_011544132.1:c.467del	XP_011542434.1:p.Gly156AspfsTer24
XM_011544132.2:c.467del	XP_011542434.1:p.Gly156AspfsTer24
NM_000143.4:c.695del MANE Select	NP_000134.2:p.Gly232AspfsTer24