Canonical Allele Identifier: CA2651255647

Gene: FH

Linked Data

• gnomAD v4: 1-241517275-A-ATATCTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517275_241517276insTATCTAT , CM000663.2:g.241517275_241517276insTATCTAT	GRCh38
NC_000001.10:g.241680575_241680576insTATCTAT , CM000663.1:g.241680575_241680576insTATCTAT	GRCh37
NC_000001.9:g.239747198_239747199insTATCTAT	NCBI36
NG_012338.1:g.7479_7480insATAGATA , LRG_504:g.7479_7480insATAGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.676_677insATAGATA
ENST00000682162.1:c.202_203insATAGATA	ENSP00000508203.1:n.202_203insATAGATA
ENST00000682567.1:n.250_251insATAGATA
ENST00000683521.1:c.173_174insATAGATA	ENSP00000506864.1:p.Glu59Ter
ENST00000684483.1:c.173_174insATAGATA	ENSP00000507894.1:p.Glu59Ter
ENST00000366560.4:c.173_174insATAGATA MANE Select	ENSP00000355518.4:p.Glu59Ter
ENST00000366560.3:c.173_174insATAGATA	ENSP00000355518.3:p.Glu59Ter
ENST00000493477.1:n.286_287insATAGATA
NM_000143.3:c.173_174insATAGATA , LRG_504t1:c.173_174insATAGATA	NP_000134.2:p.Glu59Ter
XM_011544132.1:c.-56_-55insATAGATA	XP_011542434.1:n.-56_-55insATAGATA
XM_011544132.2:c.-56_-55insATAGATA	XP_011542434.1:n.-56_-55insATAGATA
NM_000143.4:c.173_174insATAGATA MANE Select	NP_000134.2:p.Glu59Ter