Canonical Allele Identifier: CA1229580654

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508671_241508673delinsCTT , CM000663.2:g.241508671_241508673delinsCTT	GRCh38
NC_000001.10:g.241671971_241671973delinsCTT , CM000663.1:g.241671971_241671973delinsCTT	GRCh37
NC_000001.9:g.239738594_239738596delinsCTT	NCBI36
NG_012338.1:g.16082_16084delinsAAG , LRG_504:g.16082_16084delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1171_1173delinsAAG
ENST00000682162.1:c.697_699delinsAAG	ENSP00000508203.1:n.697_699delinsAAG
ENST00000682567.1:n.745_747delinsAAG
ENST00000683521.1:c.668_670delinsAAG	ENSP00000506864.1:p.Lys223=
ENST00000684161.1:n.1883_1885delinsAAG
ENST00000684483.1:c.*64_*66delinsAAG	ENSP00000507894.1:n.*64_*66delinsAAG
ENST00000366560.4:c.668_670delinsAAG MANE Select	ENSP00000355518.4:p.Lys223=
ENST00000366560.3:c.668_670delinsAAG	ENSP00000355518.3:p.Lys223=
NM_000143.3:c.668_670delinsAAG , LRG_504t1:c.668_670delinsAAG	NP_000134.2:p.Lys223=
XM_011544132.1:c.440_442delinsAAG	XP_011542434.1:p.Lys147=
XM_011544132.2:c.440_442delinsAAG	XP_011542434.1:p.Lys147=
NM_000143.4:c.668_670delinsAAG MANE Select	NP_000134.2:p.Lys223=