Canonical Allele Identifier: CA1229580701

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508771_241508773delinsAGT , CM000663.2:g.241508771_241508773delinsAGT	GRCh38
NC_000001.10:g.241672071_241672073delinsAGT , CM000663.1:g.241672071_241672073delinsAGT	GRCh37
NC_000001.9:g.239738694_239738696delinsAGT	NCBI36
NG_012338.1:g.15982_15984delinsACT , LRG_504:g.15982_15984delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1071_1073delinsACT
ENST00000682162.1:c.597_599delinsACT	ENSP00000508203.1:n.597_599delinsACT
ENST00000682567.1:n.645_647delinsACT
ENST00000683521.1:c.568_570delinsACT	ENSP00000506864.1:p.Thr190=
ENST00000684161.1:n.1783_1785delinsACT
ENST00000684483.1:c.556-13_556-11delinsACT	ENSP00000507894.1:n.556-13_556-11delinsACT
ENST00000366560.4:c.568_570delinsACT MANE Select	ENSP00000355518.4:p.Thr190=
ENST00000366560.3:c.568_570delinsACT	ENSP00000355518.3:p.Thr190=
NM_000143.3:c.568_570delinsACT , LRG_504t1:c.568_570delinsACT	NP_000134.2:p.Thr190=
XM_011544132.1:c.340_342delinsACT	XP_011542434.1:p.Thr114=
XM_011544132.2:c.340_342delinsACT	XP_011542434.1:p.Thr114=
NM_000143.4:c.568_570delinsACT MANE Select	NP_000134.2:p.Thr190=