Canonical Allele Identifier: CA2587871649
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679010_6679024del , CM000681.2:g.6679010_6679024del GRCh38
NC_000019.9:g.6679021_6679035del , CM000681.1:g.6679021_6679035del GRCh37
NC_000019.8:g.6630021_6630035del NCBI36
NG_009557.1:g.46634_46648del , LRG_27:g.46634_46648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+107_2978+121del
ENST00000695653.1:c.2539+107_2539+121del ENSP00000512084.1:n.2539+107_2539+121del
ENST00000695654.1:c.3655+107_3655+121del ENSP00000512085.1:n.3655+107_3655+121del
ENST00000695689.1:c.601+107_601+121del ENSP00000512101.1:n.601+107_601+121del
ENST00000695690.1:n.1695+107_1695+121del
ENST00000695691.1:n.1491+107_1491+121del
ENST00000245907.11:c.4630+107_4630+121del MANE Select ENSP00000245907.4:n.4630+107_4630+121del
ENST00000245907.10:c.4630+107_4630+121del ENSP00000245907.4:n.4630+107_4630+121del
ENST00000599668.1:n.250+107_250+121del
ENST00000599899.5:n.1589+107_1589+121del
ENST00000601008.1:c.242-1060_242-1046del ENSP00000471384.1:n.242-1060_242-1046del
ENST00000602229.1:c.77+107_77+121del
NM_000064.3:c.4630+107_4630+121del NP_000055.2:n.4630+107_4630+121del
NM_000064.4:c.4630+107_4630+121del MANE Select NP_000055.2:n.4630+107_4630+121del