Canonical Allele Identifier: CA2320550232
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679050_6679051delinsAC , CM000681.2:g.6679050_6679051delinsAC GRCh38
NC_000019.9:g.6679061_6679062delinsAC , CM000681.1:g.6679061_6679062delinsAC GRCh37
NC_000019.8:g.6630061_6630062delinsAC NCBI36
NG_009557.1:g.46601_46602delinsGT , LRG_27:g.46601_46602delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+74_2978+75delinsGT
ENST00000695653.1:c.2539+74_2539+75delinsGT ENSP00000512084.1:n.2539+74_2539+75delinsGT
ENST00000695654.1:c.3655+74_3655+75delinsGT ENSP00000512085.1:n.3655+74_3655+75delinsGT
ENST00000695689.1:c.601+74_601+75delinsGT ENSP00000512101.1:n.601+74_601+75delinsGT
ENST00000695690.1:n.1695+74_1695+75delinsGT
ENST00000695691.1:n.1491+74_1491+75delinsGT
ENST00000245907.11:c.4630+74_4630+75delinsGT MANE Select ENSP00000245907.4:n.4630+74_4630+75delinsGT
ENST00000245907.10:c.4630+74_4630+75delinsGT ENSP00000245907.4:n.4630+74_4630+75delinsGT
ENST00000599668.1:n.250+74_250+75delinsGT
ENST00000599899.5:n.1589+74_1589+75delinsGT
ENST00000601008.1:c.242-1093_242-1092delinsGT ENSP00000471384.1:n.242-1093_242-1092delinsGT
ENST00000602229.1:c.77+74_77+75delinsGT
NM_000064.3:c.4630+74_4630+75delinsGT NP_000055.2:n.4630+74_4630+75delinsGT
NM_000064.4:c.4630+74_4630+75delinsGT MANE Select NP_000055.2:n.4630+74_4630+75delinsGT