Canonical Allele Identifier: CA2508320600

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504235_241504236insGTG , CM000663.2:g.241504235_241504236insGTG	GRCh38
NC_000001.10:g.241667535_241667536insGTG , CM000663.1:g.241667535_241667536insGTG	GRCh37
NC_000001.9:g.239734158_239734159insGTG	NCBI36
NG_012338.1:g.20519_20520insCAC , LRG_504:g.20519_20520insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1417_1418insCAC
ENST00000682162.1:c.943_944insCAC	ENSP00000508203.1:n.943_944insCAC
ENST00000682567.1:n.991_992insCAC
ENST00000683521.1:c.914_915insCAC	ENSP00000506864.1:p.Phe305_Val306insThr
ENST00000684161.1:n.2129_2130insCAC
ENST00000684483.1:c.*310_*311insCAC	ENSP00000507894.1:n.*310_*311insCAC
ENST00000366560.4:c.914_915insCAC MANE Select	ENSP00000355518.4:p.Phe305_Val306insThr
ENST00000366560.3:c.914_915insCAC	ENSP00000355518.3:p.Phe305_Val306insThr
NM_000143.3:c.914_915insCAC , LRG_504t1:c.914_915insCAC	NP_000134.2:p.Phe305_Val306insThr
XM_011544132.1:c.686_687insCAC	XP_011542434.1:p.Phe229_Val230insThr
XM_011544132.2:c.686_687insCAC	XP_011542434.1:p.Phe229_Val230insThr
NM_000143.4:c.914_915insCAC MANE Select	NP_000134.2:p.Phe305_Val306insThr