Canonical Allele Identifier: CA2320566068

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709991_6710003delinsAAGGGAGAGAGGG , CM000681.2:g.6709991_6710003delinsAAGGGAGAGAGGG	GRCh38
NC_000019.9:g.6710002_6710014delinsAAGGGAGAGAGGG , CM000681.1:g.6710002_6710014delinsAAGGGAGAGAGGG	GRCh37
NC_000019.8:g.6661002_6661014delinsAAGGGAGAGAGGG	NCBI36
NG_009557.1:g.15649_15661delinsCCCTCTCTCCCTT , LRG_27:g.15649_15661delinsCCCTCTCTCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-161_1564-149delinsCCCTCTCTCCCTT	ENSP00000512083.1:n.1564-161_1564-149delinsCCCTCTCTCCCTT
ENST00000695654.1:c.811-161_811-149delinsCCCTCTCTCCCTT	ENSP00000512085.1:n.811-161_811-149delinsCCCTCTCTCCCTT
ENST00000695655.1:c.592-125_592-113delinsCCCTCTCTCCCTT	ENSP00000512086.1:n.592-125_592-113delinsCCCTCTCTCCCTT
ENST00000695692.1:n.1051-161_1051-149delinsCCCTCTCTCCCTT
ENST00000245907.11:c.1687-161_1687-149delinsCCCTCTCTCCCTT MANE Select	ENSP00000245907.4:n.1687-161_1687-149delinsCCCTCTCTCCCTT
ENST00000245907.10:c.1687-161_1687-149delinsCCCTCTCTCCCTT	ENSP00000245907.4:n.1687-161_1687-149delinsCCCTCTCTCCCTT
ENST00000600763.1:n.320-161_320-149delinsCCCTCTCTCCCTT
NM_000064.3:c.1687-161_1687-149delinsCCCTCTCTCCCTT	NP_000055.2:n.1687-161_1687-149delinsCCCTCTCTCCCTT
NM_000064.4:c.1687-161_1687-149delinsCCCTCTCTCCCTT MANE Select	NP_000055.2:n.1687-161_1687-149delinsCCCTCTCTCCCTT