Canonical Allele Identifier: CA2576592373
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713097_6713098del , CM000681.2:g.6713097_6713098del GRCh38
NC_000019.9:g.6713108_6713109del , CM000681.1:g.6713108_6713109del GRCh37
NC_000019.8:g.6664108_6664109del NCBI36
NG_009557.1:g.12555_12556del , LRG_27:g.12555_12556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.880+92_880+93del ENSP00000512083.1:n.880+92_880+93del
ENST00000695654.1:c.127+92_127+93del ENSP00000512085.1:n.127+92_127+93del
ENST00000695692.1:n.327+92_327+93del
ENST00000245907.11:c.1003+92_1003+93del MANE Select ENSP00000245907.4:n.1003+92_1003+93del
ENST00000245907.10:c.1003+92_1003+93del ENSP00000245907.4:n.1003+92_1003+93del
ENST00000594270.5:n.127+92_127+93del
ENST00000595577.1:n.507+92_507+93del
ENST00000597442.5:n.253+92_253+93del
NM_000064.3:c.1003+92_1003+93del NP_000055.2:n.1003+92_1003+93del
NM_000064.4:c.1003+92_1003+93del MANE Select NP_000055.2:n.1003+92_1003+93del