Canonical Allele Identifier: CA2649656616

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995736-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995738del , CM000663.2:g.196995738del	GRCh38
NC_000001.10:g.196964868del , CM000663.1:g.196964868del	GRCh37
NC_000001.9:g.195231491del	NCBI36
NG_016365.1:g.23202del , LRG_227:g.23202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.374del	ENSP00000514393.1:p.Pro125HisfsTer13
ENST00000699467.1:n.698del
ENST00000699468.1:c.-24-376del	ENSP00000514394.1:n.-24-376del
ENST00000256785.5:c.629del MANE Select	ENSP00000256785.4:p.Pro210HisfsTer13
ENST00000256785.4:c.629del	ENSP00000256785.4:p.Pro210HisfsTer13
NM_030787.3:c.629del , LRG_227t1:c.629del	NP_110414.1:p.Pro210HisfsTer13
XM_011510020.1:c.638del	XP_011508322.1:p.Pro213HisfsTer13
XM_011510020.2:c.638del	XP_011508322.1:p.Pro213HisfsTer13
NM_030787.4:c.629del MANE Select	NP_110414.1:p.Pro210HisfsTer13