Canonical Allele Identifier: CA1217885073

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995857_196995860delinsCAAT , CM000663.2:g.196995857_196995860delinsCAAT	GRCh38
NC_000001.10:g.196964987_196964990delinsCAAT , CM000663.1:g.196964987_196964990delinsCAAT	GRCh37
NC_000001.9:g.195231610_195231613delinsCAAT	NCBI36
NG_016365.1:g.23321_23324delinsCAAT , LRG_227:g.23321_23324delinsCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.493_496delinsCAAT	ENSP00000514393.1:p.Gln165=
ENST00000699467.1:n.817_820delinsCAAT
ENST00000699468.1:c.-24-257_-24-254delinsCAAT	ENSP00000514394.1:n.-24-257_-24-254delinsCAAT
ENST00000256785.5:c.748_751delinsCAAT MANE Select	ENSP00000256785.4:p.Gln250=
ENST00000256785.4:c.748_751delinsCAAT	ENSP00000256785.4:p.Gln250=
NM_030787.3:c.748_751delinsCAAT , LRG_227t1:c.748_751delinsCAAT	NP_110414.1:p.Gln250=
XM_011510020.1:c.757_760delinsCAAT	XP_011508322.1:p.Gln253=
XM_011510020.2:c.757_760delinsCAAT	XP_011508322.1:p.Gln253=
NM_030787.4:c.748_751delinsCAAT MANE Select	NP_110414.1:p.Gln250=