Canonical Allele Identifier: CA2735581389
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs2145428003

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6710846_6710847insAGGTAGGTGTAGTAGCGGATCT , CM000681.2:g.6710846_6710847insAGGTAGGTGTAGTAGCGGATCT GRCh38
NC_000019.9:g.6710857_6710858insAGGTAGGTGTAGTAGCGGATCT , CM000681.1:g.6710857_6710858insAGGTAGGTGTAGTAGCGGATCT GRCh37
NC_000019.8:g.6661857_6661858insAGGTAGGTGTAGTAGCGGATCT NCBI36
NG_009557.1:g.14805_14806insAGATCCGCTACTACACCTACCT , LRG_27:g.14805_14806insAGATCCGCTACTACACCTACCT

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.1357-2_1357-1insAGATCCGCTACTACACCTACCT ENSP00000512083.1:n.1357-2_1357-1insAGATC...
ENST00000695654.1:c.604-2_604-1insAGATCCGCTACTACACCTACCT ENSP00000512085.1:n.604-2_604-1insAGATCCG...
ENST00000695655.1:c.383_384insAGATCCGCTACTACACCTACCT ENSP00000512086.1:p.Ile129AspfsTer?
ENST00000695692.1:n.844-2_844-1insAGATCCGCTACTACACCTACCT
ENST00000245907.11:c.1480-2_1480-1insAGATCCGCTACTACACCTACCT MANE Select ENSP00000245907.4:n.1480-2_1480-1insAGATC...
ENST00000245907.10:c.1480-2_1480-1insAGATCCGCTACTACACCTACCT ENSP00000245907.4:n.1480-2_1480-1insAGATC...
ENST00000600763.1:n.111_112insAGATCCGCTACTACACCTACCT
NM_000064.3:c.1480-2_1480-1insAGATCCGCTACTACACCTACCT NP_000055.2:n.1480-2_1480-1insAGATCCGCTAC...
NM_000064.4:c.1480-2_1480-1insAGATCCGCTACTACACCTACCT MANE Select NP_000055.2:n.1480-2_1480-1insAGATCCGCTAC...