Canonical Allele Identifier: CA8622991
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2498373
ClinVar RCV Id: RCV003222582
dbSNP Id: rs780043425
ExAC: 17:45362045 GA / G
gnomAD v2: 17-45362045-GA-G
MyVariant Identifiers: chr17:g.45362046del (hg19) chr17:g.47284680del (hg38)
ERepo: CA8622991/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284683del , CM000679.2:g.47284683del GRCh38
NC_000017.10:g.45362049del , CM000679.1:g.45362049del GRCh37
NC_000017.9:g.42717048del NCBI36
NG_008332.2:g.35842del , LRG_481:g.35842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.602del ENSP00000513002.1:p.Asn201ThrfsTer6
ENST00000559488.7:c.602del MANE Select ENSP00000452786.2:p.Asn201ThrfsTer6
ENST00000559488.5:c.602del ENSP00000452786.1:p.Asn201ThrfsTer6
ENST00000560629.1:c.567del
ENST00000571680.1:c.602del ENSP00000461626.1:p.Asn201ThrfsTer6
NM_000212.2:c.602del , LRG_481t1:c.602del NP_000203.2:p.Asn201ThrfsTer6
NM_000212.3:c.602del MANE Select NP_000203.2:p.Asn201ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'