Canonical Allele Identifier: CA1229577270

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500474_241500478delinsCTCAT , CM000663.2:g.241500474_241500478delinsCTCAT	GRCh38
NC_000001.10:g.241663774_241663778delinsCTCAT , CM000663.1:g.241663774_241663778delinsCTCAT	GRCh37
NC_000001.9:g.239730397_239730401delinsCTCAT	NCBI36
NG_012338.1:g.24277_24281delinsATGAG , LRG_504:g.24277_24281delinsATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1852_1856delinsATGAG
ENST00000682162.1:c.1378_1382delinsATGAG	ENSP00000508203.1:n.1378_1382delinsATGAG
ENST00000682567.1:n.4749_4753delinsATGAG
ENST00000683521.1:c.1349_1353delinsATGAG	ENSP00000506864.1:p.Asn450=
ENST00000684161.1:n.2564_2568delinsATGAG
ENST00000684483.1:c.*745_*749delinsATGAG	ENSP00000507894.1:n.*745_*749delinsATGAG
ENST00000366560.4:c.1349_1353delinsATGAG MANE Select	ENSP00000355518.4:p.Asn450=
ENST00000366560.3:c.1349_1353delinsATGAG	ENSP00000355518.3:p.Asn450=
NM_000143.3:c.1349_1353delinsATGAG , LRG_504t1:c.1349_1353delinsATGAG	NP_000134.2:p.Asn450=
XM_011544132.1:c.1121_1125delinsATGAG	XP_011542434.1:p.Asn374=
XM_011544132.2:c.1121_1125delinsATGAG	XP_011542434.1:p.Asn374=
NM_000143.4:c.1349_1353delinsATGAG MANE Select	NP_000134.2:p.Asn450=