Canonical Allele Identifier: CA2459503377
Gene: GPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 940806
ClinVar RCV Id: RCV001210467
dbSNP Id: rs2071701505

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133754054_133754057dup , CM000685.2:g.133754054_133754057dup GRCh38
NC_000023.10:g.132888081_132888084dup , CM000685.1:g.132888081_132888084dup GRCh37
NC_000023.9:g.132715747_132715750dup NCBI36
NG_009286.1:g.236586_236589dup , LRG_505:g.236586_236589dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684880.1:c.*48_*51dup ENSP00000510280.1:n.*48_*51dup
ENST00000689310.1:c.412_415dup ENSP00000510438.1:p.Tyr139SerfsTer7
ENST00000692630.1:n.590_593dup
ENST00000370818.8:c.460_463dup MANE Select ENSP00000359854.3:p.Tyr155SerfsTer7
ENST00000394299.7:c.460_463dup ENSP00000377836.2:p.Tyr155SerfsTer7
ENST00000370818.7:c.460_463dup ENSP00000359854.3:p.Tyr155SerfsTer7
ENST00000394299.6:c.460_463dup ENSP00000377836.2:p.Tyr155SerfsTer7
ENST00000631057.2:c.298_301dup ENSP00000486325.1:p.Tyr101SerfsTer7
NM_001164617.1:c.460_463dup NP_001158089.1:p.Tyr155SerfsTer7
NM_001164618.1:c.412_415dup NP_001158090.1:p.Tyr139SerfsTer7
NM_001164619.1:c.298_301dup NP_001158091.1:p.Tyr101SerfsTer7
NM_004484.3:c.460_463dup , LRG_505t1:c.460_463dup NP_004475.1:p.Tyr155SerfsTer7
XM_017029413.2:c.460_463dup XP_016884902.1:p.Tyr155SerfsTer7
NM_001164617.2:c.460_463dup NP_001158089.1:p.Tyr155SerfsTer7
NM_001164618.2:c.412_415dup NP_001158090.1:p.Tyr139SerfsTer7
NM_001164619.2:c.298_301dup NP_001158091.1:p.Tyr101SerfsTer7
NM_004484.4:c.460_463dup MANE Select NP_004475.1:p.Tyr155SerfsTer7