Canonical Allele Identifier: CA2587877227

Gene: C3

Linked Data

• gnomAD v4: 19-6709615-A-ACCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709618_6709619insCCCCCCCCCCCCCCC , CM000681.2:g.6709618_6709619insCCCCCCCCCCCCCCC	GRCh38
NC_000019.9:g.6709629_6709630insCCCCCCCCCCCCCCC , CM000681.1:g.6709629_6709630insCCCCCCCCCCCCCCC	GRCh37
NC_000019.8:g.6660629_6660630insCCCCCCCCCCCCCCC	NCBI36
NG_009557.1:g.16036_16037insGGGGGGGGGGGGGGG , LRG_27:g.16036_16037insGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+68_1722+69insGGGGGGGGGGGGGGG	ENSP00000512083.1:n.1722+68_1722+69insGGGGGGGGGGGGGGG
ENST00000695654.1:c.969+68_969+69insGGGGGGGGGGGGGGG	ENSP00000512085.1:n.969+68_969+69insGGGGGGGGGGGGGGG
ENST00000695655.1:c.786+68_786+69insGGGGGGGGGGGGGGG	ENSP00000512086.1:n.786+68_786+69insGGGGGGGGGGGGGGG
ENST00000695692.1:n.1209+68_1209+69insGGGGGGGGGGGGGGG
ENST00000245907.11:c.1845+68_1845+69insGGGGGGGGGGGGGGG MANE Select	ENSP00000245907.4:n.1845+68_1845+69insGGGGGGGGGGGGGGG
ENST00000245907.10:c.1845+68_1845+69insGGGGGGGGGGGGGGG	ENSP00000245907.4:n.1845+68_1845+69insGGGGGGGGGGGGGGG
NM_000064.3:c.1845+68_1845+69insGGGGGGGGGGGGGGG	NP_000055.2:n.1845+68_1845+69insGGGGGGGGGGGGGGG
NM_000064.4:c.1845+68_1845+69insGGGGGGGGGGGGGGG MANE Select	NP_000055.2:n.1845+68_1845+69insGGGGGGGGGGGGGGG