Canonical Allele Identifier: CA2587878567

Gene: C3

Linked Data

• gnomAD v4: 19-6713849-C-CCCAGCCCCCCACCTGCCTCCACCCCCAGCCCCCCACCTGGTCCCATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713864_6713865insCCTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTG , CM000681.2:g.6713864_6713865insCCTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTG	GRCh38
NC_000019.9:g.6713875_6713876insCCTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTG , CM000681.1:g.6713875_6713876insCCTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTG	GRCh37
NC_000019.8:g.6664875_6664876insCCTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTG	NCBI36
NG_009557.1:g.11802_11803insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG , LRG_27:g.11802_11803insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+142_650+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG	ENSP00000512083.1:n.650+142_650+143insAGATGGGACCAGGTGGGGGGCTG...
ENST00000245907.11:c.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG MANE Select	ENSP00000245907.4:n.773+142_773+143insAGATGGGACCAGGTGGGGGGCTG...
ENST00000245907.10:c.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG	ENSP00000245907.4:n.773+142_773+143insAGATGGGACCAGGTGGGGGGCTG...
ENST00000595577.1:n.277+142_277+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG
NM_000064.3:c.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG	NP_000055.2:n.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTG...
NM_000064.4:c.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTGGAGGCAGGTGGGGGGCTGG MANE Select	NP_000055.2:n.773+142_773+143insAGATGGGACCAGGTGGGGGGCTGGGGGTG...