Canonical Allele Identifier: CA1876868360

Gene: C5

Linked Data

• dbSNP Id: rs2046890187
• gnomAD v4: 9-120969033-ATGCTCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969035_120969042del , CM000671.2:g.120969035_120969042del	GRCh38
NC_000009.11:g.123731313_123731320del , CM000671.1:g.123731313_123731320del	GRCh37
NC_000009.10:g.122771134_122771141del	NCBI36
NG_007364.1:g.86236_86243del , LRG_28:g.86236_86243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1254+20_1254+27del
ENST00000696279.1:c.4540+20_4540+27del
ENST00000696280.1:n.4309+20_4309+27del
ENST00000696281.1:c.4238+20_4238+27del	ENSP00000512521.1:n.4238+20_4238+27del
ENST00000697921.1:n.3098+20_3098+27del
ENST00000697922.1:c.*4210+20_*4210+27del	ENSP00000513478.1:n.*4210+20_*4210+27del
ENST00000697923.1:n.4665+20_4665+27del
ENST00000223642.3:c.4220+20_4220+27del MANE Select	ENSP00000223642.1:n.4220+20_4220+27del
ENST00000223642.2:c.4220+20_4220+27del	ENSP00000223642.1:n.4220+20_4220+27del
NM_001735.2:c.4220+20_4220+27del , LRG_28t1:c.4220+20_4220+27del	NP_001726.2:n.4220+20_4220+27del
XM_011518980.1:c.4235+20_4235+27del	XP_011517282.1:n.4235+20_4235+27del
NM_001317163.1:c.4238+20_4238+27del	NP_001304092.1:n.4238+20_4238+27del
NM_001317163.2:c.4238+20_4238+27del	NP_001304092.1:n.4238+20_4238+27del
NM_001735.3:c.4220+20_4220+27del MANE Select	NP_001726.2:n.4220+20_4220+27del