Canonical Allele Identifier: CA2748368257

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504286_241504287insTGAAGTGACTTCA , CM000663.2:g.241504286_241504287insTGAAGTGACTTCA	GRCh38
NC_000001.10:g.241667586_241667587insTGAAGTGACTTCA , CM000663.1:g.241667586_241667587insTGAAGTGACTTCA	GRCh37
NC_000001.9:g.239734209_239734210insTGAAGTGACTTCA	NCBI36
NG_012338.1:g.20469_20470insGAAGTCACTTCAT , LRG_504:g.20469_20470insGAAGTCACTTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-41_1408-40insGAAGTCACTTCAT
ENST00000682162.1:c.934-41_934-40insGAAGTCACTTCAT	ENSP00000508203.1:n.934-41_934-40insGAAGTCACTTCAT
ENST00000682567.1:n.982-41_982-40insGAAGTCACTTCAT
ENST00000683521.1:c.905-41_905-40insGAAGTCACTTCAT	ENSP00000506864.1:n.905-41_905-40insGAAGTCACTTCAT
ENST00000684161.1:n.2120-41_2120-40insGAAGTCACTTCAT
ENST00000684483.1:c.*301-41_*301-40insGAAGTCACTTCAT	ENSP00000507894.1:n.*301-41_*301-40insGAAGTCACTTCAT
ENST00000366560.4:c.905-41_905-40insGAAGTCACTTCAT MANE Select	ENSP00000355518.4:n.905-41_905-40insGAAGTCACTTCAT
ENST00000366560.3:c.905-41_905-40insGAAGTCACTTCAT	ENSP00000355518.3:n.905-41_905-40insGAAGTCACTTCAT
NM_000143.3:c.905-41_905-40insGAAGTCACTTCAT , LRG_504t1:c.905-41_905-40insGAAGTCACTTCAT	NP_000134.2:n.905-41_905-40insGAAGTCACTTCAT
XM_011544132.1:c.677-41_677-40insGAAGTCACTTCAT	XP_011542434.1:n.677-41_677-40insGAAGTCACTTCAT
XM_011544132.2:c.677-41_677-40insGAAGTCACTTCAT	XP_011542434.1:n.677-41_677-40insGAAGTCACTTCAT
NM_000143.4:c.905-41_905-40insGAAGTCACTTCAT MANE Select	NP_000134.2:n.905-41_905-40insGAAGTCACTTCAT