Canonical Allele Identifier: CA772537044
Gene: ITGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1161610169

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286311_47286314del , CM000679.2:g.47286311_47286314del GRCh38
NC_000017.10:g.45363677_45363680del , CM000679.1:g.45363677_45363680del GRCh37
NC_000017.9:g.42718676_42718679del NCBI36
NG_008332.2:g.37470_37473del , LRG_481:g.37470_37473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.666_669del ENSP00000513002.1:p.Asp224ArgfsTer2
ENST00000559488.7:c.666_669del MANE Select ENSP00000452786.2:p.Asp224ArgfsTer2
ENST00000559488.5:c.666_669del ENSP00000452786.1:p.Asp224ArgfsTer2
ENST00000560629.1:c.631_634del
ENST00000571680.1:c.666_669del ENSP00000461626.1:p.Asp224ArgfsTer2
NM_000212.2:c.666_669del , LRG_481t1:c.666_669del NP_000203.2:p.Asp224ArgfsTer2
NM_000212.3:c.666_669del MANE Select NP_000203.2:p.Asp224ArgfsTer2