Canonical Allele Identifier: CA8622899
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 953063
ClinVar RCV Id: RCV001225301
dbSNP Id: rs753932639
ExAC: 17:45360777 TG / T
gnomAD v2: 17-45360777-TG-T
MyVariant Identifiers: chr17:g.45360778del (hg19) chr17:g.47283412del (hg38)
ERepo: CA8622899/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283412del , CM000679.2:g.47283412del GRCh38
NC_000017.10:g.45360778del , CM000679.1:g.45360778del GRCh37
NC_000017.9:g.42715777del NCBI36
NG_008332.2:g.34571del , LRG_481:g.34571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.224del ENSP00000513002.1:p.Cys75LeufsTer10
ENST00000559488.7:c.224del MANE Select ENSP00000452786.2:p.Cys75LeufsTer10
ENST00000559488.5:c.224del ENSP00000452786.1:p.Cys75LeufsTer10
ENST00000560629.1:c.189del
ENST00000571680.1:c.224del ENSP00000461626.1:p.Cys75LeufsTer10
NM_000212.2:c.224del , LRG_481t1:c.224del NP_000203.2:p.Cys75LeufsTer10
NM_000212.3:c.224del MANE Select NP_000203.2:p.Cys75LeufsTer10
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