Canonical Allele Identifier: CA2320567925
Gene: C3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713438_6713441delinsATCC , CM000681.2:g.6713438_6713441delinsATCC GRCh38
NC_000019.9:g.6713449_6713452delinsATCC , CM000681.1:g.6713449_6713452delinsATCC GRCh37
NC_000019.8:g.6664449_6664452delinsATCC NCBI36
NG_009557.1:g.12211_12214delinsGGAT , LRG_27:g.12211_12214delinsGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.719_722delinsGGAT ENSP00000512083.1:p.Arg240=
ENST00000695692.1:n.166_169delinsGGAT
ENST00000245907.11:c.842_845delinsGGAT MANE Select ENSP00000245907.4:p.Arg281=
ENST00000245907.10:c.842_845delinsGGAT ENSP00000245907.4:p.Arg281=
ENST00000595577.1:n.346_349delinsGGAT
ENST00000597442.5:n.92_95delinsGGAT
NM_000064.3:c.842_845delinsGGAT NP_000055.2:p.Arg281=
NM_000064.4:c.842_845delinsGGAT MANE Select NP_000055.2:p.Arg281=
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