Canonical Allele Identifier: CA2587871660

Gene: C3

Linked Data

• gnomAD v4: 19-6679014-TCACCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679023_6679028del , CM000681.2:g.6679023_6679028del	GRCh38
NC_000019.9:g.6679034_6679039del , CM000681.1:g.6679034_6679039del	GRCh37
NC_000019.8:g.6630034_6630039del	NCBI36
NG_009557.1:g.46632_46637del , LRG_27:g.46632_46637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+105_2978+110del
ENST00000695653.1:c.2539+105_2539+110del	ENSP00000512084.1:n.2539+105_2539+110del
ENST00000695654.1:c.3655+105_3655+110del	ENSP00000512085.1:n.3655+105_3655+110del
ENST00000695689.1:c.601+105_601+110del	ENSP00000512101.1:n.601+105_601+110del
ENST00000695690.1:n.1695+105_1695+110del
ENST00000695691.1:n.1491+105_1491+110del
ENST00000245907.11:c.4630+105_4630+110del MANE Select	ENSP00000245907.4:n.4630+105_4630+110del
ENST00000245907.10:c.4630+105_4630+110del	ENSP00000245907.4:n.4630+105_4630+110del
ENST00000599668.1:n.250+105_250+110del
ENST00000599899.5:n.1589+105_1589+110del
ENST00000601008.1:c.242-1062_242-1057del	ENSP00000471384.1:n.242-1062_242-1057del
ENST00000602229.1:c.77+105_77+110del
NM_000064.3:c.4630+105_4630+110del	NP_000055.2:n.4630+105_4630+110del
NM_000064.4:c.4630+105_4630+110del MANE Select	NP_000055.2:n.4630+105_4630+110del