Canonical Allele Identifier: CA2320566070

Gene: C3

Linked Data

• dbSNP Id: rs1967869657
• gnomAD v4: 19-6709991-A-AAGGGAGAGAGGGAGGGAGAGAGAGAGAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710015_6710016insAGAGAGAGGGAGAGAGGGAGGGAGAGAGAG , CM000681.2:g.6710015_6710016insAGAGAGAGGGAGAGAGGGAGGGAGAGAGAG	GRCh38
NC_000019.9:g.6710026_6710027insAGAGAGAGGGAGAGAGGGAGGGAGAGAGAG , CM000681.1:g.6710026_6710027insAGAGAGAGGGAGAGAGGGAGGGAGAGAGAG	GRCh37
NC_000019.8:g.6661026_6661027insAGAGAGAGGGAGAGAGGGAGGGAGAGAGAG	NCBI36
NG_009557.1:g.15660_15661insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT , LRG_27:g.15660_15661insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-150_1564-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT	ENSP00000512083.1:n.1564-150_1564-149insCTCTCTCTCTCTCTCCCTCCC...
ENST00000695654.1:c.811-150_811-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT	ENSP00000512085.1:n.811-150_811-149insCTCTCTCTCTCTCTCCCTCCCTC...
ENST00000695655.1:c.592-114_592-113insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT	ENSP00000512086.1:n.592-114_592-113insCTCTCTCTCTCTCTCCCTCCCTC...
ENST00000695692.1:n.1051-150_1051-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT
ENST00000245907.11:c.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT MANE Select	ENSP00000245907.4:n.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCC...
ENST00000245907.10:c.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT	ENSP00000245907.4:n.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCC...
ENST00000600763.1:n.320-150_320-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT
NM_000064.3:c.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT	NP_000055.2:n.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTC...
NM_000064.4:c.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTCCCT MANE Select	NP_000055.2:n.1687-150_1687-149insCTCTCTCTCTCTCTCCCTCCCTCTCTC...