Canonical Allele Identifier: CA2748368255

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504280_241504281insGTGACATTTCAGA , CM000663.2:g.241504280_241504281insGTGACATTTCAGA	GRCh38
NC_000001.10:g.241667580_241667581insGTGACATTTCAGA , CM000663.1:g.241667580_241667581insGTGACATTTCAGA	GRCh37
NC_000001.9:g.239734203_239734204insGTGACATTTCAGA	NCBI36
NG_012338.1:g.20475_20476insCTGAAATGTCACT , LRG_504:g.20475_20476insCTGAAATGTCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-35_1408-34insCTGAAATGTCACT
ENST00000682162.1:c.934-35_934-34insCTGAAATGTCACT	ENSP00000508203.1:n.934-35_934-34insCTGAAATGTCACT
ENST00000682567.1:n.982-35_982-34insCTGAAATGTCACT
ENST00000683521.1:c.905-35_905-34insCTGAAATGTCACT	ENSP00000506864.1:n.905-35_905-34insCTGAAATGTCACT
ENST00000684161.1:n.2120-35_2120-34insCTGAAATGTCACT
ENST00000684483.1:c.*301-35_*301-34insCTGAAATGTCACT	ENSP00000507894.1:n.*301-35_*301-34insCTGAAATGTCACT
ENST00000366560.4:c.905-35_905-34insCTGAAATGTCACT MANE Select	ENSP00000355518.4:n.905-35_905-34insCTGAAATGTCACT
ENST00000366560.3:c.905-35_905-34insCTGAAATGTCACT	ENSP00000355518.3:n.905-35_905-34insCTGAAATGTCACT
NM_000143.3:c.905-35_905-34insCTGAAATGTCACT , LRG_504t1:c.905-35_905-34insCTGAAATGTCACT	NP_000134.2:n.905-35_905-34insCTGAAATGTCACT
XM_011544132.1:c.677-35_677-34insCTGAAATGTCACT	XP_011542434.1:n.677-35_677-34insCTGAAATGTCACT
XM_011544132.2:c.677-35_677-34insCTGAAATGTCACT	XP_011542434.1:n.677-35_677-34insCTGAAATGTCACT
NM_000143.4:c.905-35_905-34insCTGAAATGTCACT MANE Select	NP_000134.2:n.905-35_905-34insCTGAAATGTCACT