Canonical Allele Identifier: CA2739268193

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 2827564
• ClinVar RCV Id: RCV003683693

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284712_47284713del , CM000679.2:g.47284712_47284713del	GRCh38
NC_000017.10:g.45362078_45362079del , CM000679.1:g.45362078_45362079del	GRCh37
NC_000017.9:g.42717077_42717078del	NCBI36
NG_008332.2:g.35871_35872del , LRG_481:g.35871_35872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.614+17_614+18del	ENSP00000513002.1:n.614+17_614+18del
ENST00000559488.7:c.614+17_614+18del MANE Select	ENSP00000452786.2:n.614+17_614+18del
ENST00000559488.5:c.614+17_614+18del	ENSP00000452786.1:n.614+17_614+18del
ENST00000560629.1:c.579+17_579+18del
ENST00000571680.1:c.614+17_614+18del	ENSP00000461626.1:n.614+17_614+18del
NM_000212.2:c.614+17_614+18del , LRG_481t1:c.614+17_614+18del	NP_000203.2:n.614+17_614+18del
NM_000212.3:c.614+17_614+18del MANE Select	NP_000203.2:n.614+17_614+18del