Canonical Allele Identifier: CA2587877653

Gene: C3

Linked Data

• gnomAD v4: 19-6709991-A-AAGGGGGAGAGGGAGGGAGAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709995_6709996insGGAGAGGGAGGGAGAGAGAGGG , CM000681.2:g.6709995_6709996insGGAGAGGGAGGGAGAGAGAGGG	GRCh38
NC_000019.9:g.6710006_6710007insGGAGAGGGAGGGAGAGAGAGGG , CM000681.1:g.6710006_6710007insGGAGAGGGAGGGAGAGAGAGGG	GRCh37
NC_000019.8:g.6661006_6661007insGGAGAGGGAGGGAGAGAGAGGG	NCBI36
NG_009557.1:g.15660_15661insCTCTCTCCCTCCCTCTCCCCCT , LRG_27:g.15660_15661insCTCTCTCCCTCCCTCTCCCCCT

Transcript Alleles

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