Canonical Allele Identifier: CA2587877019

Gene: C3

Linked Data

• gnomAD v4: 19-6709611-T-TGGCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709611_6709612insGGCCCCCCCCCCCCCCC , CM000681.2:g.6709611_6709612insGGCCCCCCCCCCCCCCC	GRCh38
NC_000019.9:g.6709622_6709623insGGCCCCCCCCCCCCCCC , CM000681.1:g.6709622_6709623insGGCCCCCCCCCCCCCCC	GRCh37
NC_000019.8:g.6660622_6660623insGGCCCCCCCCCCCCCCC	NCBI36
NG_009557.1:g.16040_16041insGGGGGGGGGGGGGGGCC , LRG_27:g.16040_16041insGGGGGGGGGGGGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+72_1722+73insGGGGGGGGGGGGGGGCC	ENSP00000512083.1:n.1722+72_1722+73insGGGGGGGGGGGGGGGCC
ENST00000695654.1:c.969+72_969+73insGGGGGGGGGGGGGGGCC	ENSP00000512085.1:n.969+72_969+73insGGGGGGGGGGGGGGGCC
ENST00000695655.1:c.786+72_786+73insGGGGGGGGGGGGGGGCC	ENSP00000512086.1:n.786+72_786+73insGGGGGGGGGGGGGGGCC
ENST00000695692.1:n.1209+72_1209+73insGGGGGGGGGGGGGGGCC
ENST00000245907.11:c.1845+72_1845+73insGGGGGGGGGGGGGGGCC MANE Select	ENSP00000245907.4:n.1845+72_1845+73insGGGGGGGGGGGGGGGCC
ENST00000245907.10:c.1845+72_1845+73insGGGGGGGGGGGGGGGCC	ENSP00000245907.4:n.1845+72_1845+73insGGGGGGGGGGGGGGGCC
NM_000064.3:c.1845+72_1845+73insGGGGGGGGGGGGGGGCC	NP_000055.2:n.1845+72_1845+73insGGGGGGGGGGGGGGGCC
NM_000064.4:c.1845+72_1845+73insGGGGGGGGGGGGGGGCC MANE Select	NP_000055.2:n.1845+72_1845+73insGGGGGGGGGGGGGGGCC