Canonical Allele Identifier: CA915940285
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 953052
ClinVar RCV Id: RCV001225289
dbSNP Id: rs2065103002
ERepo: CA915940285/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286419_47286420del , CM000679.2:g.47286419_47286420del GRCh38
NC_000017.10:g.45363785_45363786del , CM000679.1:g.45363785_45363786del GRCh37
NC_000017.9:g.42718784_42718785del NCBI36
NG_008332.2:g.37578_37579del , LRG_481:g.37578_37579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.774_775del ENSP00000513002.1:p.Cys258Ter
ENST00000559488.7:c.774_775del MANE Select ENSP00000452786.2:p.Cys258Ter
ENST00000559488.5:c.774_775del ENSP00000452786.1:p.Cys258Ter
ENST00000560629.1:c.739_740del
ENST00000571680.1:c.774_775del ENSP00000461626.1:p.Cys258Ter
NM_000212.2:c.774_775del , LRG_481t1:c.774_775del NP_000203.2:p.Cys258Ter
NM_000212.3:c.774_775del MANE Select NP_000203.2:p.Cys258Ter
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