Canonical Allele Identifier: CA1217885162

Gene: CFHR5

Linked Data

• dbSNP Id: rs1653982090

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996042_196996043insTT , CM000663.2:g.196996042_196996043insTT	GRCh38
NC_000001.10:g.196965172_196965173insTT , CM000663.1:g.196965172_196965173insTT	GRCh37
NC_000001.9:g.195231795_195231796insTT	NCBI36
NG_016365.1:g.23506_23507insTT , LRG_227:g.23506_23507insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.556_557insTT	ENSP00000514393.1:p.Tyr186PhefsTer26
ENST00000699467.1:n.880_881insTT
ENST00000699468.1:c.-24-72_-24-71insTT	ENSP00000514394.1:n.-24-72_-24-71insTT
ENST00000256785.5:c.811_812insTT MANE Select	ENSP00000256785.4:p.Tyr271PhefsTer26
ENST00000256785.4:c.811_812insTT	ENSP00000256785.4:p.Tyr271PhefsTer26
NM_030787.3:c.811_812insTT , LRG_227t1:c.811_812insTT	NP_110414.1:p.Tyr271PhefsTer26
XM_011510020.1:c.820_821insTT	XP_011508322.1:p.Tyr274PhefsTer26
XM_011510020.2:c.820_821insTT	XP_011508322.1:p.Tyr274PhefsTer26
NM_030787.4:c.811_812insTT MANE Select	NP_110414.1:p.Tyr271PhefsTer26