Canonical Allele Identifier: CA2533282211

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504237_241504238insTTCGG , CM000663.2:g.241504237_241504238insTTCGG	GRCh38
NC_000001.10:g.241667537_241667538insTTCGG , CM000663.1:g.241667537_241667538insTTCGG	GRCh37
NC_000001.9:g.239734160_239734161insTTCGG	NCBI36
NG_012338.1:g.20517_20518insCCGAA , LRG_504:g.20517_20518insCCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1415_1416insCCGAA
ENST00000682162.1:c.941_942insCCGAA	ENSP00000508203.1:n.941_942insCCGAA
ENST00000682567.1:n.989_990insCCGAA
ENST00000683521.1:c.912_913insCCGAA	ENSP00000506864.1:p.Phe305ProfsTer26
ENST00000684161.1:n.2127_2128insCCGAA
ENST00000684483.1:c.*308_*309insCCGAA	ENSP00000507894.1:n.*308_*309insCCGAA
ENST00000366560.4:c.912_913insCCGAA MANE Select	ENSP00000355518.4:p.Phe305ProfsTer26
ENST00000366560.3:c.912_913insCCGAA	ENSP00000355518.3:p.Phe305ProfsTer26
NM_000143.3:c.912_913insCCGAA , LRG_504t1:c.912_913insCCGAA	NP_000134.2:p.Phe305ProfsTer26
XM_011544132.1:c.684_685insCCGAA	XP_011542434.1:p.Phe229ProfsTer26
XM_011544132.2:c.684_685insCCGAA	XP_011542434.1:p.Phe229ProfsTer26
NM_000143.4:c.912_913insCCGAA MANE Select	NP_000134.2:p.Phe305ProfsTer26