Canonical Allele Identifier: CA2649656608

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995692-ATTATTTATGGTTTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995697_196995711del , CM000663.2:g.196995697_196995711del	GRCh38
NC_000001.10:g.196964827_196964841del , CM000663.1:g.196964827_196964841del	GRCh37
NC_000001.9:g.195231450_195231464del	NCBI36
NG_016365.1:g.23161_23175del , LRG_227:g.23161_23175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-20_353-6del	ENSP00000514393.1:n.353-20_353-6del
ENST00000699467.1:n.677-20_677-6del
ENST00000699468.1:c.-24-417_-24-403del	ENSP00000514394.1:n.-24-417_-24-403del
ENST00000256785.5:c.608-20_608-6del MANE Select	ENSP00000256785.4:n.608-20_608-6del
ENST00000256785.4:c.608-20_608-6del	ENSP00000256785.4:n.608-20_608-6del
NM_030787.3:c.608-20_608-6del , LRG_227t1:c.608-20_608-6del	NP_110414.1:n.608-20_608-6del
XM_011510020.1:c.617-20_617-6del	XP_011508322.1:n.617-20_617-6del
XM_011510020.2:c.617-20_617-6del	XP_011508322.1:n.617-20_617-6del
NM_030787.4:c.608-20_608-6del MANE Select	NP_110414.1:n.608-20_608-6del