Canonical Allele Identifier: CA2695228060

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697658_6697664dup , CM000681.2:g.6697658_6697664dup	GRCh38
NC_000019.9:g.6697669_6697675dup , CM000681.1:g.6697669_6697675dup	GRCh37
NC_000019.8:g.6648669_6648675dup	NCBI36
NG_009557.1:g.27989_27995dup , LRG_27:g.27989_27995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.920_926dup
ENST00000695652.1:c.2449_2455dup	ENSP00000512083.1:p.Leu819ProfsTer?
ENST00000695653.1:c.481_487dup	ENSP00000512084.1:p.Leu163ProfsTer?
ENST00000695654.1:c.1696_1702dup	ENSP00000512085.1:p.Leu568ProfsTer?
ENST00000695655.1:c.1513_1519dup	ENSP00000512086.1:n.1513_1519dup
ENST00000695692.1:n.1936_1942dup
ENST00000245907.11:c.2572_2578dup MANE Select	ENSP00000245907.4:p.Leu860ProfsTer?
ENST00000245907.10:c.2572_2578dup	ENSP00000245907.4:p.Leu860ProfsTer?
ENST00000594005.1:n.53_59dup
NM_000064.3:c.2572_2578dup	NP_000055.2:p.Leu860ProfsTer?
NM_000064.4:c.2572_2578dup MANE Select	NP_000055.2:p.Leu860ProfsTer?