Canonical Allele Identifier: CA2576591645
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679067_6679073del , CM000681.2:g.6679067_6679073del GRCh38
NC_000019.9:g.6679078_6679084del , CM000681.1:g.6679078_6679084del GRCh37
NC_000019.8:g.6630078_6630084del NCBI36
NG_009557.1:g.46581_46587del , LRG_27:g.46581_46587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+54_2978+60del
ENST00000695653.1:c.2539+54_2539+60del ENSP00000512084.1:n.2539+54_2539+60del
ENST00000695654.1:c.3655+54_3655+60del ENSP00000512085.1:n.3655+54_3655+60del
ENST00000695689.1:c.601+54_601+60del ENSP00000512101.1:n.601+54_601+60del
ENST00000695690.1:n.1695+54_1695+60del
ENST00000695691.1:n.1491+54_1491+60del
ENST00000245907.11:c.4630+54_4630+60del MANE Select ENSP00000245907.4:n.4630+54_4630+60del
ENST00000245907.10:c.4630+54_4630+60del ENSP00000245907.4:n.4630+54_4630+60del
ENST00000599668.1:n.250+54_250+60del
ENST00000599899.5:n.1589+54_1589+60del
ENST00000601008.1:c.242-1113_242-1107del ENSP00000471384.1:n.242-1113_242-1107del
ENST00000602229.1:c.77+54_77+60del
NM_000064.3:c.4630+54_4630+60del NP_000055.2:n.4630+54_4630+60del
NM_000064.4:c.4630+54_4630+60del MANE Select NP_000055.2:n.4630+54_4630+60del