Canonical Allele Identifier: CA2576661557

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697357del , CM000681.2:g.6697357del	GRCh38
NC_000019.9:g.6697368del , CM000681.1:g.6697368del	GRCh37
NC_000019.8:g.6648368del	NCBI36
NG_009557.1:g.28297del , LRG_27:g.28297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1133del
ENST00000695652.1:c.2662del	ENSP00000512083.1:p.Leu888Ter
ENST00000695653.1:c.694del	ENSP00000512084.1:p.Leu232Ter
ENST00000695654.1:c.1909del	ENSP00000512085.1:p.Leu637Ter
ENST00000695655.1:c.1726del	ENSP00000512086.1:n.1726del
ENST00000695692.1:n.2149del
ENST00000245907.11:c.2785del MANE Select	ENSP00000245907.4:p.Leu929Ter
ENST00000245907.10:c.2785del	ENSP00000245907.4:p.Leu929Ter
ENST00000594005.1:n.361del
NM_000064.3:c.2785del	NP_000055.2:p.Leu929Ter
NM_000064.4:c.2785del MANE Select	NP_000055.2:p.Leu929Ter