Canonical Allele Identifier: CA2587877346

Gene: C3

Linked Data

• gnomAD v4: 19-6709620-C-CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709621_6709622insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC , CM000681.2:g.6709621_6709622insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC	GRCh38
NC_000019.9:g.6709632_6709633insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC , CM000681.1:g.6709632_6709633insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC	GRCh37
NC_000019.8:g.6660632_6660633insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC	NCBI36
NG_009557.1:g.16031_16032insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_27:g.16031_16032insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+63_1722+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512083.1:n.1722+63_1722+64insAGGGGGGGGGGGGGGGGGGGGGG...
ENST00000695654.1:c.969+63_969+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512085.1:n.969+63_969+64insAGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000695655.1:c.786+63_786+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512086.1:n.786+63_786+64insAGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000695692.1:n.1209+63_1209+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000245907.11:c.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000245907.4:n.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGG...
ENST00000245907.10:c.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000245907.4:n.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGG...
NM_000064.3:c.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000055.2:n.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000064.4:c.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000055.2:n.1845+63_1845+64insAGGGGGGGGGGGGGGGGGGGGGGGGGGGG...