Canonical Allele Identifier: CA2320561833

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701541_6701544delinsAAGG , CM000681.2:g.6701541_6701544delinsAAGG	GRCh38
NC_000019.9:g.6701552_6701555delinsAAGG , CM000681.1:g.6701552_6701555delinsAAGG	GRCh37
NC_000019.8:g.6652552_6652555delinsAAGG	NCBI36
NG_009557.1:g.24108_24111delinsCCTT , LRG_27:g.24108_24111delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.788+583_788+586delinsCCTT
ENST00000695652.1:c.2317+583_2317+586delinsCCTT	ENSP00000512083.1:n.2317+583_2317+586delinsCCTT
ENST00000695653.1:c.349+583_349+586delinsCCTT	ENSP00000512084.1:n.349+583_349+586delinsCCTT
ENST00000695654.1:c.1564+583_1564+586delinsCCTT	ENSP00000512085.1:n.1564+583_1564+586delinsCCTT
ENST00000695655.1:c.1381+583_1381+586delinsCCTT	ENSP00000512086.1:n.1381+583_1381+586delinsCCTT
ENST00000695692.1:n.1804+583_1804+586delinsCCTT
ENST00000245907.11:c.2440+583_2440+586delinsCCTT MANE Select	ENSP00000245907.4:n.2440+583_2440+586delinsCCTT
ENST00000245907.10:c.2440+583_2440+586delinsCCTT	ENSP00000245907.4:n.2440+583_2440+586delinsCCTT
ENST00000602053.1:n.488+583_488+586delinsCCTT
NM_000064.3:c.2440+583_2440+586delinsCCTT	NP_000055.2:n.2440+583_2440+586delinsCCTT
NM_000064.4:c.2440+583_2440+586delinsCCTT MANE Select	NP_000055.2:n.2440+583_2440+586delinsCCTT