Canonical Allele Identifier: CA2813436844
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690449_6690450delinsGA , CM000681.2:g.6690449_6690450delinsGA GRCh38
NC_000019.9:g.6690460_6690461delinsGA , CM000681.1:g.6690460_6690461delinsGA GRCh37
NC_000019.8:g.6641460_6641461delinsGA NCBI36
NG_009557.1:g.35202_35203delinsTC , LRG_27:g.35202_35203delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.1837+179_1837+180delinsTC
ENST00000695652.1:c.3366+179_3366+180delinsTC ENSP00000512083.1:n.3366+179_3366+180delinsTC
ENST00000695653.1:c.1398+179_1398+180delinsTC ENSP00000512084.1:n.1398+179_1398+180delinsTC
ENST00000695654.1:c.2514+2474_2514+2475delinsTC ENSP00000512085.1:n.2514+2474_2514+2475delinsTC
ENST00000695655.1:c.2430+179_2430+180delinsTC ENSP00000512086.1:n.2430+179_2430+180delinsTC
ENST00000695692.1:n.2853+179_2853+180delinsTC
ENST00000245907.11:c.3489+179_3489+180delinsTC MANE Select ENSP00000245907.4:n.3489+179_3489+180delinsTC
ENST00000245907.10:c.3489+179_3489+180delinsTC ENSP00000245907.4:n.3489+179_3489+180delinsTC
ENST00000598805.2:n.259+179_259+180delinsTC
ENST00000601008.1:c.84+179_84+180delinsTC ENSP00000471384.1:n.84+179_84+180delinsTC
NM_000064.3:c.3489+179_3489+180delinsTC NP_000055.2:n.3489+179_3489+180delinsTC
NM_000064.4:c.3489+179_3489+180delinsTC MANE Select NP_000055.2:n.3489+179_3489+180delinsTC