Canonical Allele Identifier: CA915940689
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691467
ClinVar RCV Id: RCV002254802
dbSNP Id: rs2143096900

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286319del , CM000679.2:g.47286319del GRCh38
NC_000017.10:g.45363685del , CM000679.1:g.45363685del GRCh37
NC_000017.9:g.42718684del NCBI36
NG_008332.2:g.37478del , LRG_481:g.37478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.674del ENSP00000513002.1:p.Gln225ArgfsTer2
ENST00000559488.7:c.674del MANE Select ENSP00000452786.2:p.Gln225ArgfsTer2
ENST00000559488.5:c.674del ENSP00000452786.1:p.Gln225ArgfsTer2
ENST00000560629.1:c.639del
ENST00000571680.1:c.674del ENSP00000461626.1:p.Gln225ArgfsTer2
NM_000212.2:c.674del , LRG_481t1:c.674del NP_000203.2:p.Gln225ArgfsTer2
NM_000212.3:c.674del MANE Select NP_000203.2:p.Gln225ArgfsTer2