Canonical Allele Identifier: CA1229578168

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502559_241502562delinsGGTT , CM000663.2:g.241502559_241502562delinsGGTT	GRCh38
NC_000001.10:g.241665859_241665862delinsGGTT , CM000663.1:g.241665859_241665862delinsGGTT	GRCh37
NC_000001.9:g.239732482_239732485delinsGGTT	NCBI36
NG_012338.1:g.22193_22196delinsAACC , LRG_504:g.22193_22196delinsAACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1620_1623delinsAACC
ENST00000682162.1:c.1146_1149delinsAACC	ENSP00000508203.1:n.1146_1149delinsAACC
ENST00000682567.1:n.2665_2668delinsAACC
ENST00000683521.1:c.1117_1120delinsAACC	ENSP00000506864.1:p.Asn373=
ENST00000684161.1:n.2332_2335delinsAACC
ENST00000684483.1:c.*513_*516delinsAACC	ENSP00000507894.1:n.*513_*516delinsAACC
ENST00000366560.4:c.1117_1120delinsAACC MANE Select	ENSP00000355518.4:p.Asn373=
ENST00000366560.3:c.1117_1120delinsAACC	ENSP00000355518.3:p.Asn373=
NM_000143.3:c.1117_1120delinsAACC , LRG_504t1:c.1117_1120delinsAACC	NP_000134.2:p.Asn373=
XM_011544132.1:c.889_892delinsAACC	XP_011542434.1:p.Asn297=
XM_011544132.2:c.889_892delinsAACC	XP_011542434.1:p.Asn297=
NM_000143.4:c.1117_1120delinsAACC MANE Select	NP_000134.2:p.Asn373=