Canonical Allele Identifier: CA2580101527
Gene: GPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709306
ClinVar RCV Id: RCV002289121

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133536131_133536132del , CM000685.2:g.133536131_133536132del GRCh38
NC_000023.10:g.132670159_132670160del , CM000685.1:g.132670159_132670160del GRCh37
NC_000023.9:g.132497825_132497826del NCBI36
NG_009286.1:g.454508_454509del , LRG_505:g.454508_454509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406757.3:c.925_926del
ENST00000689310.1:c.1688_1689del ENSP00000510438.1:p.Val563AlafsTer?
ENST00000692084.1:c.1023_1024del
ENST00000370818.8:c.1736_1737del MANE Select ENSP00000359854.3:p.Val579AlafsTer?
ENST00000394299.7:c.1805_1806del ENSP00000377836.2:p.Val602AlafsTer?
ENST00000669691.1:n.802_803del
ENST00000370818.7:c.1736_1737del ENSP00000359854.3:p.Val579AlafsTer?
ENST00000394299.6:c.1805_1806del ENSP00000377836.2:p.Val602AlafsTer?
ENST00000631057.2:c.1574_1575del ENSP00000486325.1:p.Val525AlafsTer?
NM_001164617.1:c.1805_1806del NP_001158089.1:p.Val602AlafsTer?
NM_001164618.1:c.1688_1689del NP_001158090.1:p.Val563AlafsTer?
NM_001164619.1:c.1574_1575del NP_001158091.1:p.Val525AlafsTer?
NM_004484.3:c.1736_1737del , LRG_505t1:c.1736_1737del NP_004475.1:p.Val579AlafsTer?
NM_001164617.2:c.1805_1806del NP_001158089.1:p.Val602AlafsTer?
NM_001164618.2:c.1688_1689del NP_001158090.1:p.Val563AlafsTer?
NM_001164619.2:c.1574_1575del NP_001158091.1:p.Val525AlafsTer?
NM_004484.4:c.1736_1737del MANE Select NP_004475.1:p.Val579AlafsTer?