Canonical Allele Identifier: CA2531478604
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697297del , CM000681.2:g.6697297del GRCh38
NC_000019.9:g.6697308del , CM000681.1:g.6697308del GRCh37
NC_000019.8:g.6648308del NCBI36
NG_009557.1:g.28356del , LRG_27:g.28356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1144+48del
ENST00000695652.1:c.2673+48del ENSP00000512083.1:n.2673+48del
ENST00000695653.1:c.705+48del ENSP00000512084.1:n.705+48del
ENST00000695654.1:c.1920+48del ENSP00000512085.1:n.1920+48del
ENST00000695655.1:c.1737+48del ENSP00000512086.1:n.1737+48del
ENST00000695692.1:n.2160+48del
ENST00000245907.11:c.2796+48del MANE Select ENSP00000245907.4:n.2796+48del
ENST00000245907.10:c.2796+48del ENSP00000245907.4:n.2796+48del
ENST00000594005.1:n.372+48del
NM_000064.3:c.2796+48del NP_000055.2:n.2796+48del
NM_000064.4:c.2796+48del MANE Select NP_000055.2:n.2796+48del