Canonical Allele Identifier: CA2587875595

Gene: C3

Linked Data

• gnomAD v4: 19-6697616-CAGCCTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697619_6697626del , CM000681.2:g.6697619_6697626del	GRCh38
NC_000019.9:g.6697630_6697637del , CM000681.1:g.6697630_6697637del	GRCh37
NC_000019.8:g.6648630_6648637del	NCBI36
NG_009557.1:g.28028_28035del , LRG_27:g.28028_28035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.931+28_931+35del
ENST00000695652.1:c.2460+28_2460+35del	ENSP00000512083.1:n.2460+28_2460+35del
ENST00000695653.1:c.492+28_492+35del	ENSP00000512084.1:n.492+28_492+35del
ENST00000695654.1:c.1707+28_1707+35del	ENSP00000512085.1:n.1707+28_1707+35del
ENST00000695655.1:c.1524+28_1524+35del	ENSP00000512086.1:n.1524+28_1524+35del
ENST00000695692.1:n.1947+28_1947+35del
ENST00000245907.11:c.2583+28_2583+35del MANE Select	ENSP00000245907.4:n.2583+28_2583+35del
ENST00000245907.10:c.2583+28_2583+35del	ENSP00000245907.4:n.2583+28_2583+35del
ENST00000594005.1:n.92_99del
NM_000064.3:c.2583+28_2583+35del	NP_000055.2:n.2583+28_2583+35del
NM_000064.4:c.2583+28_2583+35del MANE Select	NP_000055.2:n.2583+28_2583+35del