Canonical Allele Identifier: CA2695201740

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697370_6697375del , CM000681.2:g.6697370_6697375del	GRCh38
NC_000019.9:g.6697381_6697386del , CM000681.1:g.6697381_6697386del	GRCh37
NC_000019.8:g.6648381_6648386del	NCBI36
NG_009557.1:g.28280_28285del , LRG_27:g.28280_28285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1116_1121del
ENST00000695652.1:c.2645_2650del	ENSP00000512083.1:p.Asp882_Gly883del
ENST00000695653.1:c.677_682del	ENSP00000512084.1:p.Asp226_Gly227del
ENST00000695654.1:c.1892_1897del	ENSP00000512085.1:p.Asp631_Gly632del
ENST00000695655.1:c.1709_1714del	ENSP00000512086.1:n.1709_1714del
ENST00000695692.1:n.2132_2137del
ENST00000245907.11:c.2768_2773del MANE Select	ENSP00000245907.4:p.Asp923_Gly924del
ENST00000245907.10:c.2768_2773del	ENSP00000245907.4:p.Asp923_Gly924del
ENST00000594005.1:n.344_349del
NM_000064.3:c.2768_2773del	NP_000055.2:p.Asp923_Gly924del
NM_000064.4:c.2768_2773del MANE Select	NP_000055.2:p.Asp923_Gly924del