Canonical Allele Identifier: CA626684825

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 1330313
• ClinVar RCV Id: RCV001803406 ; RCV003728011
• dbSNP Id: rs1438135616
• gnomAD v2: 17-45360776-CTG-C
• gnomAD v4: 17-47283410-CTG-C
• MyVariant Identifiers: chr17:g.45360777_45360778del (hg19) ; chr17:g.47283411_47283412del (hg38)
• ERepo: CA626684825/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47283413_47283414del , CM000679.2:g.47283413_47283414del	GRCh38
NC_000017.10:g.45360779_45360780del , CM000679.1:g.45360779_45360780del	GRCh37
NC_000017.9:g.42715778_42715779del	NCBI36
NG_008332.2:g.34572_34573del , LRG_481:g.34572_34573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.225_226del	ENSP00000513002.1:p.Ala76ProfsTer10
ENST00000559488.7:c.225_226del MANE Select	ENSP00000452786.2:p.Ala76ProfsTer10
ENST00000559488.5:c.225_226del	ENSP00000452786.1:p.Ala76ProfsTer10
ENST00000560629.1:c.190_191del
ENST00000571680.1:c.225_226del	ENSP00000461626.1:p.Ala76ProfsTer10
NM_000212.2:c.225_226del , LRG_481t1:c.225_226del	NP_000203.2:p.Ala76ProfsTer10
NM_000212.3:c.225_226del MANE Select	NP_000203.2:p.Ala76ProfsTer10