Canonical Allele Identifier: CA2587878613

Gene: C3

Linked Data

• gnomAD v4: 19-6713924-A-AGCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713925_6713926insCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCCG , CM000681.2:g.6713925_6713926insCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCCG	GRCh38
NC_000019.9:g.6713936_6713937insCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCCG , CM000681.1:g.6713936_6713937insCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCCG	GRCh37
NC_000019.8:g.6664936_6664937insCCCCCCACCTGGTCCCATCTCCAGCCCCCCACCTGACTCCACCCCCCG	NCBI36
NG_009557.1:g.11727_11728insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC , LRG_27:g.11727_11728insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+67_650+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC	ENSP00000512083.1:n.650+67_650+68insGGGGGGTGGAGTCAGGTGGGGGGCT...
ENST00000245907.11:c.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC MANE Select	ENSP00000245907.4:n.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCT...
ENST00000245907.10:c.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC	ENSP00000245907.4:n.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCT...
ENST00000595577.1:n.277+67_277+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC
NM_000064.3:c.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC	NP_000055.2:n.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGAT...
NM_000064.4:c.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGATGGGACCAGGTGGGGGGC MANE Select	NP_000055.2:n.773+67_773+68insGGGGGGTGGAGTCAGGTGGGGGGCTGGAGAT...