Canonical Allele Identifier: CA2576302256
Gene: ITGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286395_47286397dup , CM000679.2:g.47286395_47286397dup GRCh38
NC_000017.10:g.45363761_45363763dup , CM000679.1:g.45363761_45363763dup GRCh37
NC_000017.9:g.42718760_42718762dup NCBI36
NG_008332.2:g.37554_37556dup , LRG_481:g.37554_37556dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.750_752dup ENSP00000513002.1:p.Ala251_Ile252insAla
ENST00000559488.7:c.750_752dup MANE Select ENSP00000452786.2:p.Ala251_Ile252insAla
ENST00000559488.5:c.750_752dup ENSP00000452786.1:p.Ala251_Ile252insAla
ENST00000560629.1:c.715_717dup
ENST00000571680.1:c.750_752dup ENSP00000461626.1:p.Ala251_Ile252insAla
NM_000212.2:c.750_752dup , LRG_481t1:c.750_752dup NP_000203.2:p.Ala251_Ile252insAla
NM_000212.3:c.750_752dup MANE Select NP_000203.2:p.Ala251_Ile252insAla