Canonical Allele Identifier: CA1229580660

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508682_241508683delinsGC , CM000663.2:g.241508682_241508683delinsGC	GRCh38
NC_000001.10:g.241671982_241671983delinsGC , CM000663.1:g.241671982_241671983delinsGC	GRCh37
NC_000001.9:g.239738605_239738606delinsGC	NCBI36
NG_012338.1:g.16072_16073delinsGC , LRG_504:g.16072_16073delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1161_1162delinsGC
ENST00000682162.1:c.687_688delinsGC	ENSP00000508203.1:n.687_688delinsGC
ENST00000682567.1:n.735_736delinsGC
ENST00000683521.1:c.658_659delinsGC	ENSP00000506864.1:p.Ala220=
ENST00000684161.1:n.1873_1874delinsGC
ENST00000684483.1:c.*54_*55delinsGC	ENSP00000507894.1:n.*54_*55delinsGC
ENST00000366560.4:c.658_659delinsGC MANE Select	ENSP00000355518.4:p.Ala220=
ENST00000366560.3:c.658_659delinsGC	ENSP00000355518.3:p.Ala220=
NM_000143.3:c.658_659delinsGC , LRG_504t1:c.658_659delinsGC	NP_000134.2:p.Ala220=
XM_011544132.1:c.430_431delinsGC	XP_011542434.1:p.Ala144=
XM_011544132.2:c.430_431delinsGC	XP_011542434.1:p.Ala144=
NM_000143.4:c.658_659delinsGC MANE Select	NP_000134.2:p.Ala220=