Canonical Allele Identifier: CA2587871689

Gene: C3

Linked Data

• gnomAD v4: 19-6679054-CACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679058_6679061del , CM000681.2:g.6679058_6679061del	GRCh38
NC_000019.9:g.6679069_6679072del , CM000681.1:g.6679069_6679072del	GRCh37
NC_000019.8:g.6630069_6630072del	NCBI36
NG_009557.1:g.46594_46597del , LRG_27:g.46594_46597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+67_2978+70del
ENST00000695653.1:c.2539+67_2539+70del	ENSP00000512084.1:n.2539+67_2539+70del
ENST00000695654.1:c.3655+67_3655+70del	ENSP00000512085.1:n.3655+67_3655+70del
ENST00000695689.1:c.601+67_601+70del	ENSP00000512101.1:n.601+67_601+70del
ENST00000695690.1:n.1695+67_1695+70del
ENST00000695691.1:n.1491+67_1491+70del
ENST00000245907.11:c.4630+67_4630+70del MANE Select	ENSP00000245907.4:n.4630+67_4630+70del
ENST00000245907.10:c.4630+67_4630+70del	ENSP00000245907.4:n.4630+67_4630+70del
ENST00000599668.1:n.250+67_250+70del
ENST00000599899.5:n.1589+67_1589+70del
ENST00000601008.1:c.242-1100_242-1097del	ENSP00000471384.1:n.242-1100_242-1097del
ENST00000602229.1:c.77+67_77+70del
NM_000064.3:c.4630+67_4630+70del	NP_000055.2:n.4630+67_4630+70del
NM_000064.4:c.4630+67_4630+70del MANE Select	NP_000055.2:n.4630+67_4630+70del