Canonical Allele Identifier: CA2320552889

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685076_6685077delinsAG , CM000681.2:g.6685076_6685077delinsAG	GRCh38
NC_000019.9:g.6685087_6685088delinsAG , CM000681.1:g.6685087_6685088delinsAG	GRCh37
NC_000019.8:g.6636087_6636088delinsAG	NCBI36
NG_009557.1:g.40575_40576delinsCT , LRG_27:g.40575_40576delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2228_2229delinsCT
ENST00000695653.1:c.1789_1790delinsCT	ENSP00000512084.1:p.Leu597=
ENST00000695654.1:c.2905_2906delinsCT	ENSP00000512085.1:p.Leu969=
ENST00000695690.1:n.71_72delinsCT
ENST00000695691.1:n.71_72delinsCT
ENST00000245907.11:c.3880_3881delinsCT MANE Select	ENSP00000245907.4:p.Leu1294=
ENST00000245907.10:c.3880_3881delinsCT	ENSP00000245907.4:p.Leu1294=
ENST00000596238.1:n.323_324delinsCT
ENST00000601008.1:c.241+1669_241+1670delinsCT	ENSP00000471384.1:n.241+1669_241+1670delinsCT
NM_000064.3:c.3880_3881delinsCT	NP_000055.2:p.Leu1294=
NM_000064.4:c.3880_3881delinsCT MANE Select	NP_000055.2:p.Leu1294=