Canonical Allele Identifier: CA2587873369

Gene: C3

Linked Data

• gnomAD v4: 19-6686023-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686027_6686029del , CM000681.2:g.6686027_6686029del	GRCh38
NC_000019.9:g.6686038_6686040del , CM000681.1:g.6686038_6686040del	GRCh37
NC_000019.8:g.6637038_6637040del	NCBI36
NG_009557.1:g.39626_39628del , LRG_27:g.39626_39628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+98_2158+100del
ENST00000695653.1:c.1719+98_1719+100del	ENSP00000512084.1:n.1719+98_1719+100del
ENST00000695654.1:c.2835+98_2835+100del	ENSP00000512085.1:n.2835+98_2835+100del
ENST00000245907.11:c.3810+98_3810+100del MANE Select	ENSP00000245907.4:n.3810+98_3810+100del
ENST00000245907.10:c.3810+98_3810+100del	ENSP00000245907.4:n.3810+98_3810+100del
ENST00000596238.1:n.253+98_253+100del
ENST00000601008.1:c.241+720_241+722del	ENSP00000471384.1:n.241+720_241+722del
NM_000064.3:c.3810+98_3810+100del	NP_000055.2:n.3810+98_3810+100del
NM_000064.4:c.3810+98_3810+100del MANE Select	NP_000055.2:n.3810+98_3810+100del