Canonical Allele Identifier: CA2813446775
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714108del , CM000681.2:g.6714108del GRCh38
NC_000019.9:g.6714119del , CM000681.1:g.6714119del GRCh37
NC_000019.8:g.6665119del NCBI36
NG_009557.1:g.11547del , LRG_27:g.11547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.560-23del ENSP00000512083.1:n.560-23del
ENST00000245907.11:c.683-23del MANE Select ENSP00000245907.4:n.683-23del
ENST00000245907.10:c.683-23del ENSP00000245907.4:n.683-23del
ENST00000595577.1:n.187-23del
NM_000064.3:c.683-23del NP_000055.2:n.683-23del
NM_000064.4:c.683-23del MANE Select NP_000055.2:n.683-23del