Canonical Allele Identifier: CA8622982

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 1879008
• ClinVar RCV Id: RCV002511509 ; RCV003561060
• dbSNP Id: rs758289890
• ExAC: 17:45362013 CA / C
• gnomAD v2: 17-45362013-CA-C
• gnomAD v4: 17-47284647-CA-C
• MyVariant Identifiers: chr17:g.45362014del (hg19) ; chr17:g.47284648del (hg38)
• ERepo: CA8622982/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284648del , CM000679.2:g.47284648del	GRCh38
NC_000017.10:g.45362014del , CM000679.1:g.45362014del	GRCh37
NC_000017.9:g.42717013del	NCBI36
NG_008332.2:g.35807del , LRG_481:g.35807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.567del	ENSP00000513002.1:p.Tyr190ThrfsTer17
ENST00000559488.7:c.567del MANE Select	ENSP00000452786.2:p.Tyr190ThrfsTer17
ENST00000559488.5:c.567del	ENSP00000452786.1:p.Tyr190ThrfsTer17
ENST00000560629.1:c.532del
ENST00000571680.1:c.567del	ENSP00000461626.1:p.Tyr190ThrfsTer17
NM_000212.2:c.567del , LRG_481t1:c.567del	NP_000203.2:p.Tyr190ThrfsTer17
NM_000212.3:c.567del MANE Select	NP_000203.2:p.Tyr190ThrfsTer17