Canonical Allele Identifier: CA2576591607

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682186del , CM000681.2:g.6682186del	GRCh38
NC_000019.9:g.6682197del , CM000681.1:g.6682197del	GRCh37
NC_000019.8:g.6633197del	NCBI36
NG_009557.1:g.43466del , LRG_27:g.43466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2564del
ENST00000695653.1:c.2125del	ENSP00000512084.1:p.Ser709ProfsTer2
ENST00000695654.1:c.3241del	ENSP00000512085.1:p.Ser1081ProfsTer2
ENST00000695689.1:c.187del	ENSP00000512101.1:n.187del
ENST00000695690.1:n.407del
ENST00000695691.1:n.407del
ENST00000245907.11:c.4216del MANE Select	ENSP00000245907.4:p.Ser1406ProfsTer2
ENST00000245907.10:c.4216del	ENSP00000245907.4:p.Ser1406ProfsTer2
ENST00000596548.1:c.337del	ENSP00000469744.1:p.Ser113ProfsTer2
ENST00000599899.5:n.1175del
ENST00000601008.1:c.242-4228del	ENSP00000471384.1:n.242-4228del
NM_000064.3:c.4216del	NP_000055.2:p.Ser1406ProfsTer2
NM_000064.4:c.4216del MANE Select	NP_000055.2:p.Ser1406ProfsTer2