Canonical Allele Identifier: CA626378543

Gene: ITGB3

Linked Data

• dbSNP Id: rs1377608200
• gnomAD v2: 17-45362049-AC-A
• gnomAD v4: 17-47284683-AC-A
• MyVariant Identifiers: chr17:g.45362050del (hg19) ; chr17:g.47284684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284687del , CM000679.2:g.47284687del	GRCh38
NC_000017.10:g.45362053del , CM000679.1:g.45362053del	GRCh37
NC_000017.9:g.42717052del	NCBI36
NG_008332.2:g.35846del , LRG_481:g.35846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.606del	ENSP00000513002.1:p.Cys203AlafsTer4
ENST00000559488.7:c.606del MANE Select	ENSP00000452786.2:p.Cys203AlafsTer4
ENST00000559488.5:c.606del	ENSP00000452786.1:p.Cys203AlafsTer4
ENST00000560629.1:c.571del
ENST00000571680.1:c.606del	ENSP00000461626.1:p.Cys203AlafsTer4
NM_000212.2:c.606del , LRG_481t1:c.606del	NP_000203.2:p.Cys203AlafsTer4
NM_000212.3:c.606del MANE Select	NP_000203.2:p.Cys203AlafsTer4