Canonical Allele Identifier: CA1229582036

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512017_241512018delinsGT , CM000663.2:g.241512017_241512018delinsGT	GRCh38
NC_000001.10:g.241675317_241675318delinsGT , CM000663.1:g.241675317_241675318delinsGT	GRCh37
NC_000001.9:g.239741940_239741941delinsGT	NCBI36
NG_012338.1:g.12737_12738delinsAC , LRG_504:g.12737_12738delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1007_1008delinsAC
ENST00000682162.1:c.533_534delinsAC	ENSP00000508203.1:n.533_534delinsAC
ENST00000682567.1:n.581_582delinsAC
ENST00000683521.1:c.504_505delinsAC	ENSP00000506864.1:p.Glu168=
ENST00000684483.1:c.504_505delinsAC	ENSP00000507894.1:p.Glu168=
ENST00000366560.4:c.504_505delinsAC MANE Select	ENSP00000355518.4:p.Glu168=
ENST00000366560.3:c.504_505delinsAC	ENSP00000355518.3:p.Glu168=
ENST00000497042.1:n.200_201delinsAC
NM_000143.3:c.504_505delinsAC , LRG_504t1:c.504_505delinsAC	NP_000134.2:p.Glu168=
XM_011544132.1:c.276_277delinsAC	XP_011542434.1:p.Glu92=
XM_011544132.2:c.276_277delinsAC	XP_011542434.1:p.Glu92=
NM_000143.4:c.504_505delinsAC MANE Select	NP_000134.2:p.Glu168=