Canonical Allele Identifier: CA2587877212

Gene: C3

Linked Data

• gnomAD v4: 19-6709613-C-CCCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709614_6709615insCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCTC , CM000681.2:g.6709614_6709615insCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCTC	GRCh38
NC_000019.9:g.6709625_6709626insCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCTC , CM000681.1:g.6709625_6709626insCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCTC	GRCh37
NC_000019.8:g.6660625_6660626insCCCCCCCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCTCTC	NCBI36
NG_009557.1:g.16038_16039insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_27:g.16038_16039insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+70_1722+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512083.1:n.1722+70_1722+71insAGAGGGGGGGGGGGCAGGGGGGG...
ENST00000695654.1:c.969+70_969+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512085.1:n.969+70_969+71insAGAGGGGGGGGGGGCAGGGGGGGGG...
ENST00000695655.1:c.786+70_786+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000512086.1:n.786+70_786+71insAGAGGGGGGGGGGGCAGGGGGGGGG...
ENST00000695692.1:n.1209+70_1209+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG
ENST00000245907.11:c.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000245907.4:n.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGG...
ENST00000245907.10:c.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000245907.4:n.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGG...
NM_000064.3:c.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000055.2:n.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGG...
NM_000064.4:c.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000055.2:n.1845+70_1845+71insAGAGGGGGGGGGGGCAGGGGGGGGGGGGG...