Canonical Allele Identifier: CA2587877333

Gene: C3

Linked Data

• gnomAD v4: 19-6709619-A-ACCACCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709621_6709622insACCCCCCCCCCCCCC , CM000681.2:g.6709621_6709622insACCCCCCCCCCCCCC	GRCh38
NC_000019.9:g.6709632_6709633insACCCCCCCCCCCCCC , CM000681.1:g.6709632_6709633insACCCCCCCCCCCCCC	GRCh37
NC_000019.8:g.6660632_6660633insACCCCCCCCCCCCCC	NCBI36
NG_009557.1:g.16032_16033insGGGGGGGGGGGGTGG , LRG_27:g.16032_16033insGGGGGGGGGGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+64_1722+65insGGGGGGGGGGGGTGG	ENSP00000512083.1:n.1722+64_1722+65insGGGGGGGGGGGGTGG
ENST00000695654.1:c.969+64_969+65insGGGGGGGGGGGGTGG	ENSP00000512085.1:n.969+64_969+65insGGGGGGGGGGGGTGG
ENST00000695655.1:c.786+64_786+65insGGGGGGGGGGGGTGG	ENSP00000512086.1:n.786+64_786+65insGGGGGGGGGGGGTGG
ENST00000695692.1:n.1209+64_1209+65insGGGGGGGGGGGGTGG
ENST00000245907.11:c.1845+64_1845+65insGGGGGGGGGGGGTGG MANE Select	ENSP00000245907.4:n.1845+64_1845+65insGGGGGGGGGGGGTGG
ENST00000245907.10:c.1845+64_1845+65insGGGGGGGGGGGGTGG	ENSP00000245907.4:n.1845+64_1845+65insGGGGGGGGGGGGTGG
NM_000064.3:c.1845+64_1845+65insGGGGGGGGGGGGTGG	NP_000055.2:n.1845+64_1845+65insGGGGGGGGGGGGTGG
NM_000064.4:c.1845+64_1845+65insGGGGGGGGGGGGTGG MANE Select	NP_000055.2:n.1845+64_1845+65insGGGGGGGGGGGGTGG