Canonical Allele Identifier: CA2587877407

Gene: C3

Linked Data

• gnomAD v4: 19-6709623-C-CCCCCCCCCCCCCCCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709627_6709628insCCCCCCCCCCCCCGGCCCC , CM000681.2:g.6709627_6709628insCCCCCCCCCCCCCGGCCCC	GRCh38
NC_000019.9:g.6709638_6709639insCCCCCCCCCCCCCGGCCCC , CM000681.1:g.6709638_6709639insCCCCCCCCCCCCCGGCCCC	GRCh37
NC_000019.8:g.6660638_6660639insCCCCCCCCCCCCCGGCCCC	NCBI36
NG_009557.1:g.16028_16029insCCGGGGGGGGGGGGGGGGG , LRG_27:g.16028_16029insCCGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+60_1722+61insCCGGGGGGGGGGGGGGGGG	ENSP00000512083.1:n.1722+60_1722+61insCCGGGGGGGGGGGGGGGGG
ENST00000695654.1:c.969+60_969+61insCCGGGGGGGGGGGGGGGGG	ENSP00000512085.1:n.969+60_969+61insCCGGGGGGGGGGGGGGGGG
ENST00000695655.1:c.786+60_786+61insCCGGGGGGGGGGGGGGGGG	ENSP00000512086.1:n.786+60_786+61insCCGGGGGGGGGGGGGGGGG
ENST00000695692.1:n.1209+60_1209+61insCCGGGGGGGGGGGGGGGGG
ENST00000245907.11:c.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG MANE Select	ENSP00000245907.4:n.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG
ENST00000245907.10:c.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG	ENSP00000245907.4:n.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG
NM_000064.3:c.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG	NP_000055.2:n.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG
NM_000064.4:c.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG MANE Select	NP_000055.2:n.1845+60_1845+61insCCGGGGGGGGGGGGGGGGG