Canonical Allele Identifier: CA2566521517
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709633_6709634insCCCCCCCCC , CM000681.2:g.6709633_6709634insCCCCCCCCC GRCh38
NC_000019.9:g.6709644_6709645insCCCCCCCCC , CM000681.1:g.6709644_6709645insCCCCCCCCC GRCh37
NC_000019.8:g.6660644_6660645insCCCCCCCCC NCBI36
NG_009557.1:g.16022_16023insGGGGGGGGG , LRG_27:g.16022_16023insGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1722+54_1722+55insGGGGGGGGG ENSP00000512083.1:n.1722+54_1722+55insGGGGGGGGG
ENST00000695654.1:c.969+54_969+55insGGGGGGGGG ENSP00000512085.1:n.969+54_969+55insGGGGGGGGG
ENST00000695655.1:c.786+54_786+55insGGGGGGGGG ENSP00000512086.1:n.786+54_786+55insGGGGGGGGG
ENST00000695692.1:n.1209+54_1209+55insGGGGGGGGG
ENST00000245907.11:c.1845+54_1845+55insGGGGGGGGG MANE Select ENSP00000245907.4:n.1845+54_1845+55insGGGGGGGGG
ENST00000245907.10:c.1845+54_1845+55insGGGGGGGGG ENSP00000245907.4:n.1845+54_1845+55insGGGGGGGGG
NM_000064.3:c.1845+54_1845+55insGGGGGGGGG NP_000055.2:n.1845+54_1845+55insGGGGGGGGG
NM_000064.4:c.1845+54_1845+55insGGGGGGGGG MANE Select NP_000055.2:n.1845+54_1845+55insGGGGGGGGG