Canonical Allele Identifier: CA2587878299

Gene: C3

Linked Data

• gnomAD v4: 19-6713503-G-GGTTCCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713503_6713504insGTTCCTCT , CM000681.2:g.6713503_6713504insGTTCCTCT	GRCh38
NC_000019.9:g.6713514_6713515insGTTCCTCT , CM000681.1:g.6713514_6713515insGTTCCTCT	GRCh37
NC_000019.8:g.6664514_6664515insGTTCCTCT	NCBI36
NG_009557.1:g.12148_12149insAGAGGAAC , LRG_27:g.12148_12149insAGAGGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.656_657insAGAGGAAC	ENSP00000512083.1:p.Tyr220GlufsTer?
ENST00000695692.1:n.103_104insAGAGGAAC
ENST00000245907.11:c.779_780insAGAGGAAC MANE Select	ENSP00000245907.4:p.Tyr261GlufsTer?
ENST00000245907.10:c.779_780insAGAGGAAC	ENSP00000245907.4:p.Tyr261GlufsTer?
ENST00000595577.1:n.283_284insAGAGGAAC
ENST00000597442.5:n.29_30insAGAGGAAC
NM_000064.3:c.779_780insAGAGGAAC	NP_000055.2:p.Tyr261GlufsTer?
NM_000064.4:c.779_780insAGAGGAAC MANE Select	NP_000055.2:p.Tyr261GlufsTer?