Canonical Allele Identifier: CA1217885047

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995785_196995786delinsGA , CM000663.2:g.196995785_196995786delinsGA	GRCh38
NC_000001.10:g.196964915_196964916delinsGA , CM000663.1:g.196964915_196964916delinsGA	GRCh37
NC_000001.9:g.195231538_195231539delinsGA	NCBI36
NG_016365.1:g.23249_23250delinsGA , LRG_227:g.23249_23250delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.421_422delinsGA	ENSP00000514393.1:p.Glu141=
ENST00000699467.1:n.745_746delinsGA
ENST00000699468.1:c.-24-329_-24-328delinsGA	ENSP00000514394.1:n.-24-329_-24-328delinsGA
ENST00000256785.5:c.676_677delinsGA MANE Select	ENSP00000256785.4:p.Glu226=
ENST00000256785.4:c.676_677delinsGA	ENSP00000256785.4:p.Glu226=
NM_030787.3:c.676_677delinsGA , LRG_227t1:c.676_677delinsGA	NP_110414.1:p.Glu226=
XM_011510020.1:c.685_686delinsGA	XP_011508322.1:p.Glu229=
XM_011510020.2:c.685_686delinsGA	XP_011508322.1:p.Glu229=
NM_030787.4:c.676_677delinsGA MANE Select	NP_110414.1:p.Glu226=