Canonical Allele Identifier: CA2649656617

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995739-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995744_196995746del , CM000663.2:g.196995744_196995746del	GRCh38
NC_000001.10:g.196964874_196964876del , CM000663.1:g.196964874_196964876del	GRCh37
NC_000001.9:g.195231497_195231499del	NCBI36
NG_016365.1:g.23208_23210del , LRG_227:g.23208_23210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.380_382del	ENSP00000514393.1:p.Pro127del
ENST00000699467.1:n.704_706del
ENST00000699468.1:c.-24-370_-24-368del	ENSP00000514394.1:n.-24-370_-24-368del
ENST00000256785.5:c.635_637del MANE Select	ENSP00000256785.4:p.Pro212del
ENST00000256785.4:c.635_637del	ENSP00000256785.4:p.Pro212del
NM_030787.3:c.635_637del , LRG_227t1:c.635_637del	NP_110414.1:p.Pro212del
XM_011510020.1:c.644_646del	XP_011508322.1:p.Pro215del
XM_011510020.2:c.644_646del	XP_011508322.1:p.Pro215del
NM_030787.4:c.635_637del MANE Select	NP_110414.1:p.Pro212del