Canonical Allele Identifier: CA2521899445

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504239_241504240insATGTATTTT , CM000663.2:g.241504239_241504240insATGTATTTT	GRCh38
NC_000001.10:g.241667539_241667540insATGTATTTT , CM000663.1:g.241667539_241667540insATGTATTTT	GRCh37
NC_000001.9:g.239734162_239734163insATGTATTTT	NCBI36
NG_012338.1:g.20515_20516insAAAATACAT , LRG_504:g.20515_20516insAAAATACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1413_1414insAAAATACAT
ENST00000682162.1:c.939_940insAAAATACAT	ENSP00000508203.1:n.939_940insAAAATACAT
ENST00000682567.1:n.987_988insAAAATACAT
ENST00000683521.1:c.910_911insAAAATACAT	ENSP00000506864.1:p.Pro304delinsGlnAsnThrSer
ENST00000684161.1:n.2125_2126insAAAATACAT
ENST00000684483.1:c.*306_*307insAAAATACAT	ENSP00000507894.1:n.*306_*307insAAAATACAT
ENST00000366560.4:c.910_911insAAAATACAT MANE Select	ENSP00000355518.4:p.Pro304delinsGlnAsnThrSer
ENST00000366560.3:c.910_911insAAAATACAT	ENSP00000355518.3:p.Pro304delinsGlnAsnThrSer
NM_000143.3:c.910_911insAAAATACAT , LRG_504t1:c.910_911insAAAATACAT	NP_000134.2:p.Pro304delinsGlnAsnThrSer
XM_011544132.1:c.682_683insAAAATACAT	XP_011542434.1:p.Pro228delinsGlnAsnThrSer
XM_011544132.2:c.682_683insAAAATACAT	XP_011542434.1:p.Pro228delinsGlnAsnThrSer
NM_000143.4:c.910_911insAAAATACAT MANE Select	NP_000134.2:p.Pro304delinsGlnAsnThrSer