Canonical Allele Identifier: CA1229578783

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504067_241504068delinsAT , CM000663.2:g.241504067_241504068delinsAT	GRCh38
NC_000001.10:g.241667367_241667368delinsAT , CM000663.1:g.241667367_241667368delinsAT	GRCh37
NC_000001.9:g.239733990_239733991delinsAT	NCBI36
NG_012338.1:g.20687_20688delinsAT , LRG_504:g.20687_20688delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1585_1586delinsAT
ENST00000682162.1:c.1111_1112delinsAT	ENSP00000508203.1:n.1111_1112delinsAT
ENST00000682567.1:n.1159_1160delinsAT
ENST00000683521.1:c.1082_1083delinsAT	ENSP00000506864.1:p.Asn361=
ENST00000684161.1:n.2297_2298delinsAT
ENST00000684483.1:c.*478_*479delinsAT	ENSP00000507894.1:n.*478_*479delinsAT
ENST00000366560.4:c.1082_1083delinsAT MANE Select	ENSP00000355518.4:p.Asn361=
ENST00000366560.3:c.1082_1083delinsAT	ENSP00000355518.3:p.Asn361=
NM_000143.3:c.1082_1083delinsAT , LRG_504t1:c.1082_1083delinsAT	NP_000134.2:p.Asn361=
XM_011544132.1:c.854_855delinsAT	XP_011542434.1:p.Asn285=
XM_011544132.2:c.854_855delinsAT	XP_011542434.1:p.Asn285=
NM_000143.4:c.1082_1083delinsAT MANE Select	NP_000134.2:p.Asn361=