Canonical Allele Identifier: CA2320553433

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686113_6686117delinsGGCCC , CM000681.2:g.6686113_6686117delinsGGCCC	GRCh38
NC_000019.9:g.6686124_6686128delinsGGCCC , CM000681.1:g.6686124_6686128delinsGGCCC	GRCh37
NC_000019.8:g.6637124_6637128delinsGGCCC	NCBI36
NG_009557.1:g.39535_39539delinsGGGCC , LRG_27:g.39535_39539delinsGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+7_2158+11delinsGGGCC
ENST00000695653.1:c.1719+7_1719+11delinsGGGCC	ENSP00000512084.1:n.1719+7_1719+11delinsGGGCC
ENST00000695654.1:c.2835+7_2835+11delinsGGGCC	ENSP00000512085.1:n.2835+7_2835+11delinsGGGCC
ENST00000695692.1:n.3181_3185delinsGGGCC
ENST00000245907.11:c.3810+7_3810+11delinsGGGCC MANE Select	ENSP00000245907.4:n.3810+7_3810+11delinsGGGCC
ENST00000245907.10:c.3810+7_3810+11delinsGGGCC	ENSP00000245907.4:n.3810+7_3810+11delinsGGGCC
ENST00000596238.1:n.253+7_253+11delinsGGGCC
ENST00000601008.1:c.241+629_241+633delinsGGGCC	ENSP00000471384.1:n.241+629_241+633delinsGGGCC
NM_000064.3:c.3810+7_3810+11delinsGGGCC	NP_000055.2:n.3810+7_3810+11delinsGGGCC
NM_000064.4:c.3810+7_3810+11delinsGGGCC MANE Select	NP_000055.2:n.3810+7_3810+11delinsGGGCC