Canonical Allele Identifier: CA2576592392

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713469_6713470insTG , CM000681.2:g.6713469_6713470insTG	GRCh38
NC_000019.9:g.6713480_6713481insTG , CM000681.1:g.6713480_6713481insTG	GRCh37
NC_000019.8:g.6664480_6664481insTG	NCBI36
NG_009557.1:g.12182_12183insCA , LRG_27:g.12182_12183insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.690_691insCA	ENSP00000512083.1:p.Ile231GlnfsTer?
ENST00000695692.1:n.137_138insCA
ENST00000245907.11:c.813_814insCA MANE Select	ENSP00000245907.4:p.Ile272GlnfsTer?
ENST00000245907.10:c.813_814insCA	ENSP00000245907.4:p.Ile272GlnfsTer?
ENST00000595577.1:n.317_318insCA
ENST00000597442.5:n.63_64insCA
NM_000064.3:c.813_814insCA	NP_000055.2:p.Ile272GlnfsTer?
NM_000064.4:c.813_814insCA MANE Select	NP_000055.2:p.Ile272GlnfsTer?