Canonical Allele Identifier: CA1217885094

Gene: CFHR5

Linked Data

• dbSNP Id: rs1653978234

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995894_196995895insGAG , CM000663.2:g.196995894_196995895insGAG	GRCh38
NC_000001.10:g.196965024_196965025insGAG , CM000663.1:g.196965024_196965025insGAG	GRCh37
NC_000001.9:g.195231647_195231648insGAG	NCBI36
NG_016365.1:g.23358_23359insGAG , LRG_227:g.23358_23359insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.530_531insGAG	ENSP00000514393.1:p.Cys177delinsTrpSer
ENST00000699467.1:n.854_855insGAG
ENST00000699468.1:c.-24-220_-24-219insGAG	ENSP00000514394.1:n.-24-220_-24-219insGAG
ENST00000256785.5:c.785_786insGAG MANE Select	ENSP00000256785.4:p.Cys262delinsTrpSer
ENST00000256785.4:c.785_786insGAG	ENSP00000256785.4:p.Cys262delinsTrpSer
NM_030787.3:c.785_786insGAG , LRG_227t1:c.785_786insGAG	NP_110414.1:p.Cys262delinsTrpSer
XM_011510020.1:c.794_795insGAG	XP_011508322.1:p.Cys265delinsTrpSer
XM_011510020.2:c.794_795insGAG	XP_011508322.1:p.Cys265delinsTrpSer
NM_030787.4:c.785_786insGAG MANE Select	NP_110414.1:p.Cys262delinsTrpSer