Canonical Allele Identifier: CA2691481266

Gene: C5

Linked Data

• gnomAD v4: 9-120974781-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974782del , CM000671.2:g.120974782del	GRCh38
NC_000009.11:g.123737060del , CM000671.1:g.123737060del	GRCh37
NC_000009.10:g.122776881del	NCBI36
NG_007364.1:g.80495del , LRG_28:g.80495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.925del
ENST00000696279.1:c.4334del
ENST00000696280.1:n.4103del
ENST00000696281.1:c.4032del	ENSP00000512521.1:p.Glu1345ArgfsTer23
ENST00000697921.1:n.2892del
ENST00000697922.1:c.*4004del	ENSP00000513478.1:n.*4004del
ENST00000697923.1:n.4459del
ENST00000223642.3:c.4014del MANE Select	ENSP00000223642.1:p.Glu1339ArgfsTer23
ENST00000223642.2:c.4014del	ENSP00000223642.1:p.Glu1339ArgfsTer23
NM_001735.2:c.4014del , LRG_28t1:c.4014del	NP_001726.2:p.Glu1339ArgfsTer23
XM_011518980.1:c.4029del	XP_011517282.1:p.Glu1344ArgfsTer23
NM_001317163.1:c.4032del	NP_001304092.1:p.Glu1345ArgfsTer23
NM_001317163.2:c.4032del	NP_001304092.1:p.Glu1345ArgfsTer23
NM_001735.3:c.4014del MANE Select	NP_001726.2:p.Glu1339ArgfsTer23