Canonical Allele Identifier: CA2587871816

Gene: C3

Linked Data

• gnomAD v4: 19-6679350-G-GGGTAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679350_6679351insGGTAAGT , CM000681.2:g.6679350_6679351insGGTAAGT	GRCh38
NC_000019.9:g.6679361_6679362insGGTAAGT , CM000681.1:g.6679361_6679362insGGTAAGT	GRCh37
NC_000019.8:g.6630361_6630362insGGTAAGT	NCBI36
NG_009557.1:g.46301_46302insACTTACC , LRG_27:g.46301_46302insACTTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2894+56_2894+57insACTTACC
ENST00000695653.1:c.2455+56_2455+57insACTTACC	ENSP00000512084.1:n.2455+56_2455+57insACTTACC
ENST00000695654.1:c.3571+56_3571+57insACTTACC	ENSP00000512085.1:n.3571+56_3571+57insACTTACC
ENST00000695689.1:c.517+56_517+57insACTTACC	ENSP00000512101.1:n.517+56_517+57insACTTACC
ENST00000695690.1:n.1611+56_1611+57insACTTACC
ENST00000695691.1:n.1407+56_1407+57insACTTACC
ENST00000245907.11:c.4546+56_4546+57insACTTACC MANE Select	ENSP00000245907.4:n.4546+56_4546+57insACTTACC
ENST00000245907.10:c.4546+56_4546+57insACTTACC	ENSP00000245907.4:n.4546+56_4546+57insACTTACC
ENST00000599668.1:n.166+31_166+32insACTTACC
ENST00000599899.5:n.1505+56_1505+57insACTTACC
ENST00000601008.1:c.242-1393_242-1392insACTTACC	ENSP00000471384.1:n.242-1393_242-1392insACTTACC
NM_000064.3:c.4546+56_4546+57insACTTACC	NP_000055.2:n.4546+56_4546+57insACTTACC
NM_000064.4:c.4546+56_4546+57insACTTACC MANE Select	NP_000055.2:n.4546+56_4546+57insACTTACC