Canonical Allele Identifier: CA2320567927
Gene: C3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713440_6713442delinsCCT , CM000681.2:g.6713440_6713442delinsCCT GRCh38
NC_000019.9:g.6713451_6713453delinsCCT , CM000681.1:g.6713451_6713453delinsCCT GRCh37
NC_000019.8:g.6664451_6664453delinsCCT NCBI36
NG_009557.1:g.12210_12212delinsAGG , LRG_27:g.12210_12212delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.718_720delinsAGG ENSP00000512083.1:p.Arg240=
ENST00000695692.1:n.165_167delinsAGG
ENST00000245907.11:c.841_843delinsAGG MANE Select ENSP00000245907.4:p.Arg281=
ENST00000245907.10:c.841_843delinsAGG ENSP00000245907.4:p.Arg281=
ENST00000595577.1:n.345_347delinsAGG
ENST00000597442.5:n.91_93delinsAGG
NM_000064.3:c.841_843delinsAGG NP_000055.2:p.Arg281=
NM_000064.4:c.841_843delinsAGG MANE Select NP_000055.2:p.Arg281=
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