Canonical Allele Identifier: CA2813446537
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709621_6709622insACCCCCACCCCCCCCCCCC , CM000681.2:g.6709621_6709622insACCCCCACCCCCCCCCCCC GRCh38
NC_000019.9:g.6709632_6709633insACCCCCACCCCCCCCCCCC , CM000681.1:g.6709632_6709633insACCCCCACCCCCCCCCCCC GRCh37
NC_000019.8:g.6660632_6660633insACCCCCACCCCCCCCCCCC NCBI36
NG_009557.1:g.16032_16033insGGGGGGGGGGTGGGGGTGG , LRG_27:g.16032_16033insGGGGGGGGGGTGGGGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1722+64_1722+65insGGGGGGGGGGTGGGGGTGG ENSP00000512083.1:n.1722+64_1722+65insGGGGGGGGGGTGGGGGTGG
ENST00000695654.1:c.969+64_969+65insGGGGGGGGGGTGGGGGTGG ENSP00000512085.1:n.969+64_969+65insGGGGGGGGGGTGGGGGTGG
ENST00000695655.1:c.786+64_786+65insGGGGGGGGGGTGGGGGTGG ENSP00000512086.1:n.786+64_786+65insGGGGGGGGGGTGGGGGTGG
ENST00000695692.1:n.1209+64_1209+65insGGGGGGGGGGTGGGGGTGG
ENST00000245907.11:c.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG MANE Select ENSP00000245907.4:n.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG
ENST00000245907.10:c.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG ENSP00000245907.4:n.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG
NM_000064.3:c.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG NP_000055.2:n.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG
NM_000064.4:c.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG MANE Select NP_000055.2:n.1845+64_1845+65insGGGGGGGGGGTGGGGGTGG