Canonical Allele Identifier: CA2576591708
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679339del , CM000681.2:g.6679339del GRCh38
NC_000019.9:g.6679350del , CM000681.1:g.6679350del GRCh37
NC_000019.8:g.6630350del NCBI36
NG_009557.1:g.46313del , LRG_27:g.46313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2894+68del
ENST00000695653.1:c.2455+68del ENSP00000512084.1:n.2455+68del
ENST00000695654.1:c.3571+68del ENSP00000512085.1:n.3571+68del
ENST00000695689.1:c.517+68del ENSP00000512101.1:n.517+68del
ENST00000695690.1:n.1611+68del
ENST00000695691.1:n.1407+68del
ENST00000245907.11:c.4546+68del MANE Select ENSP00000245907.4:n.4546+68del
ENST00000245907.10:c.4546+68del ENSP00000245907.4:n.4546+68del
ENST00000599668.1:n.166+43del
ENST00000599899.5:n.1505+68del
ENST00000601008.1:c.242-1381del ENSP00000471384.1:n.242-1381del
NM_000064.3:c.4546+68del NP_000055.2:n.4546+68del
NM_000064.4:c.4546+68del MANE Select NP_000055.2:n.4546+68del