Canonical Allele Identifier: CA8623029
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 996178
ClinVar RCV Id: RCV001290472 RCV002245948 RCV003546695
dbSNP Id: rs746626039
ExAC: 17:45363717 CAG / C
gnomAD v2: 17-45363717-CAG-C
gnomAD v3: 17-47286351-CAG-C
gnomAD v4: 17-47286351-CAG-C
MyVariant Identifiers: chr17:g.45363718_45363719del (hg19) chr17:g.47286352_47286353del (hg38)
ERepo: CA8623029/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286354_47286355del , CM000679.2:g.47286354_47286355del GRCh38
NC_000017.10:g.45363720_45363721del , CM000679.1:g.45363720_45363721del GRCh37
NC_000017.9:g.42718719_42718720del NCBI36
NG_008332.2:g.37513_37514del , LRG_481:g.37513_37514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.709_710del ENSP00000513002.1:p.Ser237CysfsTer13
ENST00000559488.7:c.709_710del MANE Select ENSP00000452786.2:p.Ser237CysfsTer13
ENST00000559488.5:c.709_710del ENSP00000452786.1:p.Ser237CysfsTer13
ENST00000560629.1:c.674_675del
ENST00000571680.1:c.709_710del ENSP00000461626.1:p.Ser237CysfsTer13
NM_000212.2:c.709_710del , LRG_481t1:c.709_710del NP_000203.2:p.Ser237CysfsTer13
NM_000212.3:c.709_710del MANE Select NP_000203.2:p.Ser237CysfsTer13
Search 100 bp 5'
Search 100 bp 3'