Canonical Allele Identifier: CA2513129864
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679461_6679463del , CM000681.2:g.6679461_6679463del GRCh38
NC_000019.9:g.6679472_6679474del , CM000681.1:g.6679472_6679474del GRCh37
NC_000019.8:g.6630472_6630474del NCBI36
NG_009557.1:g.46193_46195del , LRG_27:g.46193_46195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2842_2844del
ENST00000695653.1:c.2403_2405del ENSP00000512084.1:p.Glu801del
ENST00000695654.1:c.3519_3521del ENSP00000512085.1:p.Glu1173del
ENST00000695689.1:c.465_467del ENSP00000512101.1:n.465_467del
ENST00000695690.1:n.1559_1561del
ENST00000695691.1:n.1355_1357del
ENST00000245907.11:c.4494_4496del MANE Select ENSP00000245907.4:p.Glu1498del
ENST00000245907.10:c.4494_4496del ENSP00000245907.4:p.Glu1498del
ENST00000599668.1:n.89_91del
ENST00000599899.5:n.1453_1455del
ENST00000601008.1:c.242-1501_242-1499del ENSP00000471384.1:n.242-1501_242-1499del
NM_000064.3:c.4494_4496del NP_000055.2:p.Glu1498del
NM_000064.4:c.4494_4496del MANE Select NP_000055.2:p.Glu1498del