Canonical Allele Identifier: CA2587871821

Gene: C3

Linked Data

• gnomAD v4: 19-6679359-A-ATGGGTCTGGGGGTCCCTGACCATGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679359_6679360insTGGGTCTGGGGGTCCCTGACCATGGGAT , CM000681.2:g.6679359_6679360insTGGGTCTGGGGGTCCCTGACCATGGGAT	GRCh38
NC_000019.9:g.6679370_6679371insTGGGTCTGGGGGTCCCTGACCATGGGAT , CM000681.1:g.6679370_6679371insTGGGTCTGGGGGTCCCTGACCATGGGAT	GRCh37
NC_000019.8:g.6630370_6630371insTGGGTCTGGGGGTCCCTGACCATGGGAT	NCBI36
NG_009557.1:g.46292_46293insATCCCATGGTCAGGGACCCCCAGACCCA , LRG_27:g.46292_46293insATCCCATGGTCAGGGACCCCCAGACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2894+47_2894+48insATCCCATGGTCAGGGACCCCCAGACCCA
ENST00000695653.1:c.2455+47_2455+48insATCCCATGGTCAGGGACCCCCAGACCCA	ENSP00000512084.1:n.2455+47_2455+48insATCCCATGGTCAGGGACCCCCAG...
ENST00000695654.1:c.3571+47_3571+48insATCCCATGGTCAGGGACCCCCAGACCCA	ENSP00000512085.1:n.3571+47_3571+48insATCCCATGGTCAGGGACCCCCAG...
ENST00000695689.1:c.517+47_517+48insATCCCATGGTCAGGGACCCCCAGACCCA	ENSP00000512101.1:n.517+47_517+48insATCCCATGGTCAGGGACCCCCAGAC...
ENST00000695690.1:n.1611+47_1611+48insATCCCATGGTCAGGGACCCCCAGACCCA
ENST00000695691.1:n.1407+47_1407+48insATCCCATGGTCAGGGACCCCCAGACCCA
ENST00000245907.11:c.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA MANE Select	ENSP00000245907.4:n.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAG...
ENST00000245907.10:c.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA	ENSP00000245907.4:n.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAG...
ENST00000599668.1:n.166+22_166+23insATCCCATGGTCAGGGACCCCCAGACCCA
ENST00000599899.5:n.1505+47_1505+48insATCCCATGGTCAGGGACCCCCAGACCCA
ENST00000601008.1:c.242-1402_242-1401insATCCCATGGTCAGGGACCCCCAGACCCA	ENSP00000471384.1:n.242-1402_242-1401insATCCCATGGTCAGGGACCCCC...
NM_000064.3:c.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA	NP_000055.2:n.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA
NM_000064.4:c.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA MANE Select	NP_000055.2:n.4546+47_4546+48insATCCCATGGTCAGGGACCCCCAGACCCA