Canonical Allele Identifier: CA2839091319

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709701dup , CM000681.2:g.6709701dup	GRCh38
NC_000019.9:g.6709712dup , CM000681.1:g.6709712dup	GRCh37
NC_000019.8:g.6660712dup	NCBI36
NG_009557.1:g.15953dup , LRG_27:g.15953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1707dup	ENSP00000512083.1:p.Leu570ThrfsTer5
ENST00000695654.1:c.954dup	ENSP00000512085.1:p.Leu319ThrfsTer5
ENST00000695655.1:c.771dup	ENSP00000512086.1:n.771dup
ENST00000695692.1:n.1194dup
ENST00000245907.11:c.1830dup MANE Select	ENSP00000245907.4:p.Leu611ThrfsTer5
ENST00000245907.10:c.1830dup	ENSP00000245907.4:p.Leu611ThrfsTer5
NM_000064.3:c.1830dup	NP_000055.2:p.Leu611ThrfsTer5
NM_000064.4:c.1830dup MANE Select	NP_000055.2:p.Leu611ThrfsTer5