Canonical Allele Identifier: CA2320566116

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710042_6710054delinsAGGGAGAGACAGG , CM000681.2:g.6710042_6710054delinsAGGGAGAGACAGG	GRCh38
NC_000019.9:g.6710053_6710065delinsAGGGAGAGACAGG , CM000681.1:g.6710053_6710065delinsAGGGAGAGACAGG	GRCh37
NC_000019.8:g.6661053_6661065delinsAGGGAGAGACAGG	NCBI36
NG_009557.1:g.15598_15610delinsCCTGTCTCTCCCT , LRG_27:g.15598_15610delinsCCTGTCTCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-212_1564-200delinsCCTGTCTCTCCCT	ENSP00000512083.1:n.1564-212_1564-200delinsCCTGTCTCTCCCT
ENST00000695654.1:c.811-212_811-200delinsCCTGTCTCTCCCT	ENSP00000512085.1:n.811-212_811-200delinsCCTGTCTCTCCCT
ENST00000695655.1:c.592-176_592-164delinsCCTGTCTCTCCCT	ENSP00000512086.1:n.592-176_592-164delinsCCTGTCTCTCCCT
ENST00000695692.1:n.1051-212_1051-200delinsCCTGTCTCTCCCT
ENST00000245907.11:c.1687-212_1687-200delinsCCTGTCTCTCCCT MANE Select	ENSP00000245907.4:n.1687-212_1687-200delinsCCTGTCTCTCCCT
ENST00000245907.10:c.1687-212_1687-200delinsCCTGTCTCTCCCT	ENSP00000245907.4:n.1687-212_1687-200delinsCCTGTCTCTCCCT
ENST00000600763.1:n.320-212_320-200delinsCCTGTCTCTCCCT
NM_000064.3:c.1687-212_1687-200delinsCCTGTCTCTCCCT	NP_000055.2:n.1687-212_1687-200delinsCCTGTCTCTCCCT
NM_000064.4:c.1687-212_1687-200delinsCCTGTCTCTCCCT MANE Select	NP_000055.2:n.1687-212_1687-200delinsCCTGTCTCTCCCT