Canonical Allele Identifier: CA2587871781

Gene: C3

Linked Data

• gnomAD v4: 19-6679323-C-CAGGGACCCCCAGACCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679323_6679324insAGGGACCCCCAGACCCA , CM000681.2:g.6679323_6679324insAGGGACCCCCAGACCCA	GRCh38
NC_000019.9:g.6679334_6679335insAGGGACCCCCAGACCCA , CM000681.1:g.6679334_6679335insAGGGACCCCCAGACCCA	GRCh37
NC_000019.8:g.6630334_6630335insAGGGACCCCCAGACCCA	NCBI36
NG_009557.1:g.46328_46329insTGGGTCTGGGGGTCCCT , LRG_27:g.46328_46329insTGGGTCTGGGGGTCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2894+83_2894+84insTGGGTCTGGGGGTCCCT
ENST00000695653.1:c.2455+83_2455+84insTGGGTCTGGGGGTCCCT	ENSP00000512084.1:n.2455+83_2455+84insTGGGTCTGGGGGTCCCT
ENST00000695654.1:c.3571+83_3571+84insTGGGTCTGGGGGTCCCT	ENSP00000512085.1:n.3571+83_3571+84insTGGGTCTGGGGGTCCCT
ENST00000695689.1:c.517+83_517+84insTGGGTCTGGGGGTCCCT	ENSP00000512101.1:n.517+83_517+84insTGGGTCTGGGGGTCCCT
ENST00000695690.1:n.1611+83_1611+84insTGGGTCTGGGGGTCCCT
ENST00000695691.1:n.1407+83_1407+84insTGGGTCTGGGGGTCCCT
ENST00000245907.11:c.4546+83_4546+84insTGGGTCTGGGGGTCCCT MANE Select	ENSP00000245907.4:n.4546+83_4546+84insTGGGTCTGGGGGTCCCT
ENST00000245907.10:c.4546+83_4546+84insTGGGTCTGGGGGTCCCT	ENSP00000245907.4:n.4546+83_4546+84insTGGGTCTGGGGGTCCCT
ENST00000599668.1:n.166+58_166+59insTGGGTCTGGGGGTCCCT
ENST00000599899.5:n.1505+83_1505+84insTGGGTCTGGGGGTCCCT
ENST00000601008.1:c.242-1366_242-1365insTGGGTCTGGGGGTCCCT	ENSP00000471384.1:n.242-1366_242-1365insTGGGTCTGGGGGTCCCT
NM_000064.3:c.4546+83_4546+84insTGGGTCTGGGGGTCCCT	NP_000055.2:n.4546+83_4546+84insTGGGTCTGGGGGTCCCT
NM_000064.4:c.4546+83_4546+84insTGGGTCTGGGGGTCCCT MANE Select	NP_000055.2:n.4546+83_4546+84insTGGGTCTGGGGGTCCCT