Canonical Allele Identifier: CA2587877650

Gene: C3

Linked Data

• gnomAD v4: 19-6709991-A-AAGGGAGAGAGGGTGGGAGAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710003_6710004insTGGGAGAGAGAGGGAGAGAGGG , CM000681.2:g.6710003_6710004insTGGGAGAGAGAGGGAGAGAGGG	GRCh38
NC_000019.9:g.6710014_6710015insTGGGAGAGAGAGGGAGAGAGGG , CM000681.1:g.6710014_6710015insTGGGAGAGAGAGGGAGAGAGGG	GRCh37
NC_000019.8:g.6661014_6661015insTGGGAGAGAGAGGGAGAGAGGG	NCBI36
NG_009557.1:g.15660_15661insCTCTCTCCCACCCTCTCTCCCT , LRG_27:g.15660_15661insCTCTCTCCCACCCTCTCTCCCT

Transcript Alleles

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