Canonical Allele Identifier: CA2580097030
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1926422
ClinVar RCV Id: RCV002605180
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709836_6709837delinsGT , CM000681.2:g.6709836_6709837delinsGT GRCh38
NC_000019.9:g.6709847_6709848delinsGT , CM000681.1:g.6709847_6709848delinsGT GRCh37
NC_000019.8:g.6660847_6660848delinsGT NCBI36
NG_009557.1:g.15815_15816delinsAC , LRG_27:g.15815_15816delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1569_1570delinsAC ENSP00000512083.1:p.Val524Leu
ENST00000695654.1:c.816_817delinsAC ENSP00000512085.1:p.Val273Leu
ENST00000695655.1:c.633_634delinsAC ENSP00000512086.1:n.633_634delinsAC
ENST00000695692.1:n.1056_1057delinsAC
ENST00000245907.11:c.1692_1693delinsAC MANE Select ENSP00000245907.4:p.Val565Leu
ENST00000245907.10:c.1692_1693delinsAC ENSP00000245907.4:p.Val565Leu
ENST00000600763.1:n.325_326delinsAC
NM_000064.3:c.1692_1693delinsAC NP_000055.2:p.Val565Leu
NM_000064.4:c.1692_1693delinsAC MANE Select NP_000055.2:p.Val565Leu
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