Canonical Allele Identifier: CA2813446691

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713240_6713241insAGAAGAGAAAGCCTAGTCTAAGGAGGGAGGCTCAGAGTGAAAG , CM000681.2:g.6713240_6713241insAGAAGAGAAAGCCTAGTCTAAGGAGGGAGGCTCAGAGTGAAAG	GRCh38
NC_000019.9:g.6713251_6713252insAGAAGAGAAAGCCTAGTCTAAGGAGGGAGGCTCAGAGTGAAAG , CM000681.1:g.6713251_6713252insAGAAGAGAAAGCCTAGTCTAAGGAGGGAGGCTCAGAGTGAAAG	GRCh37
NC_000019.8:g.6664251_6664252insAGAAGAGAAAGCCTAGTCTAAGGAGGGAGGCTCAGAGTGAAAG	NCBI36
NG_009557.1:g.12411_12412insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT , LRG_27:g.12411_12412insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.828_829insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT	ENSP00000512083.1:p.Asp277LeufsTer4
ENST00000695654.1:c.75_76insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT	ENSP00000512085.1:p.Asp26LeufsTer4
ENST00000695692.1:n.275_276insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT
ENST00000245907.11:c.951_952insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT MANE Select	ENSP00000245907.4:p.Asp318LeufsTer4
ENST00000245907.10:c.951_952insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT	ENSP00000245907.4:p.Asp318LeufsTer4
ENST00000594270.5:n.75_76insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT
ENST00000595577.1:n.455_456insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT
ENST00000597442.5:n.201_202insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT
NM_000064.3:c.951_952insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT	NP_000055.2:p.Asp318LeufsTer4
NM_000064.4:c.951_952insCTTTCACTCTGAGCCTCCCTCCTTAGACTAGGCTTTCTCTTCT MANE Select	NP_000055.2:p.Asp318LeufsTer4