Canonical Allele Identifier: CA859575512

Gene: C5

Linked Data

• dbSNP Id: rs1208576311
• gnomAD v3: 9-120962692-C-CT
• gnomAD v4: 9-120962692-C-CT
• MyVariant Identifiers: chr9:g.123724970_123724971insT (hg19) ; chr9:g.120962692_120962693insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962693dup , CM000671.2:g.120962693dup	GRCh38
NC_000009.11:g.123724971dup , CM000671.1:g.123724971dup	GRCh37
NC_000009.10:g.122764792dup	NCBI36
NG_007364.1:g.92584dup , LRG_28:g.92584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1516dup
ENST00000696279.1:c.4802dup
ENST00000696280.1:n.4571dup
ENST00000696281.1:c.4500dup	ENSP00000512521.1:p.Val1501SerfsTer9
ENST00000697921.1:n.3360dup
ENST00000697922.1:c.*4472dup	ENSP00000513478.1:n.*4472dup
ENST00000697923.1:n.4927dup
ENST00000223642.3:c.4482dup MANE Select	ENSP00000223642.1:p.Val1495SerfsTer9
ENST00000223642.2:c.4482dup	ENSP00000223642.1:p.Val1495SerfsTer9
ENST00000480188.1:n.15dup
NM_001735.2:c.4482dup , LRG_28t1:c.4482dup	NP_001726.2:p.Val1495SerfsTer9
XM_011518980.1:c.4497dup	XP_011517282.1:p.Val1500SerfsTer9
NM_001317163.1:c.4500dup	NP_001304092.1:p.Val1501SerfsTer9
NM_001317163.2:c.4500dup	NP_001304092.1:p.Val1501SerfsTer9
NM_001735.3:c.4482dup MANE Select	NP_001726.2:p.Val1495SerfsTer9