Canonical Allele Identifier: CA2320565877
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709639_6709642delinsCGTG , CM000681.2:g.6709639_6709642delinsCGTG GRCh38
NC_000019.9:g.6709650_6709653delinsCGTG , CM000681.1:g.6709650_6709653delinsCGTG GRCh37
NC_000019.8:g.6660650_6660653delinsCGTG NCBI36
NG_009557.1:g.16010_16013delinsCACG , LRG_27:g.16010_16013delinsCACG

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.1722+42_1722+45delinsCACG ENSP00000512083.1:n.1722+42_1722+45delinsCACG
ENST00000695654.1:c.969+42_969+45delinsCACG ENSP00000512085.1:n.969+42_969+45delinsCACG
ENST00000695655.1:c.786+42_786+45delinsCACG ENSP00000512086.1:n.786+42_786+45delinsCACG
ENST00000695692.1:n.1209+42_1209+45delinsCACG
ENST00000245907.11:c.1845+42_1845+45delinsCACG MANE Select ENSP00000245907.4:n.1845+42_1845+45delinsCACG
ENST00000245907.10:c.1845+42_1845+45delinsCACG ENSP00000245907.4:n.1845+42_1845+45delinsCACG
NM_000064.3:c.1845+42_1845+45delinsCACG NP_000055.2:n.1845+42_1845+45delinsCACG
NM_000064.4:c.1845+42_1845+45delinsCACG MANE Select NP_000055.2:n.1845+42_1845+45delinsCACG