Canonical Allele Identifier: CA2691480766

Gene: C5

Linked Data

• gnomAD v4: 9-120969031-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969032dup , CM000671.2:g.120969032dup	GRCh38
NC_000009.11:g.123731310dup , CM000671.1:g.123731310dup	GRCh37
NC_000009.10:g.122771131dup	NCBI36
NG_007364.1:g.86245dup , LRG_28:g.86245dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1254+29dup
ENST00000696279.1:c.4540+29dup
ENST00000696280.1:n.4309+29dup
ENST00000696281.1:c.4238+29dup	ENSP00000512521.1:n.4238+29dup
ENST00000697921.1:n.3098+29dup
ENST00000697922.1:c.*4210+29dup	ENSP00000513478.1:n.*4210+29dup
ENST00000697923.1:n.4665+29dup
ENST00000223642.3:c.4220+29dup MANE Select	ENSP00000223642.1:n.4220+29dup
ENST00000223642.2:c.4220+29dup	ENSP00000223642.1:n.4220+29dup
NM_001735.2:c.4220+29dup , LRG_28t1:c.4220+29dup	NP_001726.2:n.4220+29dup
XM_011518980.1:c.4235+29dup	XP_011517282.1:n.4235+29dup
NM_001317163.1:c.4238+29dup	NP_001304092.1:n.4238+29dup
NM_001317163.2:c.4238+29dup	NP_001304092.1:n.4238+29dup
NM_001735.3:c.4220+29dup MANE Select	NP_001726.2:n.4220+29dup