Canonical Allele Identifier: CA2813446692

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713313_6713314del , CM000681.2:g.6713313_6713314del	GRCh38
NC_000019.9:g.6713324_6713325del , CM000681.1:g.6713324_6713325del	GRCh37
NC_000019.8:g.6664324_6664325del	NCBI36
NG_009557.1:g.12338_12339del , LRG_27:g.12338_12339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.755_756del	ENSP00000512083.1:p.Ile252ArgfsTer?
ENST00000695654.1:c.2_3del	ENSP00000512085.1:p.Ile1ArgfsTer?
ENST00000695692.1:n.202_203del
ENST00000245907.11:c.878_879del MANE Select	ENSP00000245907.4:p.Ile293ArgfsTer?
ENST00000245907.10:c.878_879del	ENSP00000245907.4:p.Ile293ArgfsTer?
ENST00000594270.5:n.2_3del
ENST00000595577.1:n.382_383del
ENST00000597442.5:n.128_129del
NM_000064.3:c.878_879del	NP_000055.2:p.Ile293ArgfsTer?
NM_000064.4:c.878_879del MANE Select	NP_000055.2:p.Ile293ArgfsTer?