Canonical Allele Identifier: CA2587871654

Gene: C3

Linked Data

• gnomAD v4: 19-6679008-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679011_6679012del , CM000681.2:g.6679011_6679012del	GRCh38
NC_000019.9:g.6679022_6679023del , CM000681.1:g.6679022_6679023del	GRCh37
NC_000019.8:g.6630022_6630023del	NCBI36
NG_009557.1:g.46642_46643del , LRG_27:g.46642_46643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+115_2978+116del
ENST00000695653.1:c.2539+115_2539+116del	ENSP00000512084.1:n.2539+115_2539+116del
ENST00000695654.1:c.3655+115_3655+116del	ENSP00000512085.1:n.3655+115_3655+116del
ENST00000695689.1:c.601+115_601+116del	ENSP00000512101.1:n.601+115_601+116del
ENST00000695690.1:n.1695+115_1695+116del
ENST00000695691.1:n.1491+115_1491+116del
ENST00000245907.11:c.4630+115_4630+116del MANE Select	ENSP00000245907.4:n.4630+115_4630+116del
ENST00000245907.10:c.4630+115_4630+116del	ENSP00000245907.4:n.4630+115_4630+116del
ENST00000599668.1:n.250+115_250+116del
ENST00000599899.5:n.1589+115_1589+116del
ENST00000601008.1:c.242-1052_242-1051del	ENSP00000471384.1:n.242-1052_242-1051del
ENST00000602229.1:c.77+115_77+116del
NM_000064.3:c.4630+115_4630+116del	NP_000055.2:n.4630+115_4630+116del
NM_000064.4:c.4630+115_4630+116del MANE Select	NP_000055.2:n.4630+115_4630+116del