Canonical Allele Identifier: CA993073438

Gene: C3

Linked Data

• gnomAD v3: 19-6709991-A-AAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGAGAG
• gnomAD v4: 19-6709991-A-AAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710025_6710026insAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGG , CM000681.2:g.6710025_6710026insAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGG	GRCh38
NC_000019.9:g.6710036_6710037insAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGG , CM000681.1:g.6710036_6710037insAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGG	GRCh37
NC_000019.8:g.6661036_6661037insAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGG	NCBI36
NG_009557.1:g.15660_15661insCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCCCT , LRG_27:g.15660_15661insCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCCCT

Transcript Alleles

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