Canonical Allele Identifier: CA2638435537
Gene: ITGB3 HGNC NCBI

Linked Data

gnomAD v4: 17-47286361-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286362del , CM000679.2:g.47286362del GRCh38
NC_000017.10:g.45363728del , CM000679.1:g.45363728del GRCh37
NC_000017.9:g.42718727del NCBI36
NG_008332.2:g.37521del , LRG_481:g.37521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.717del ENSP00000513002.1:p.Arg240GlyfsTer?
ENST00000559488.7:c.717del MANE Select ENSP00000452786.2:p.Arg240GlyfsTer?
ENST00000559488.5:c.717del ENSP00000452786.1:p.Arg240GlyfsTer?
ENST00000560629.1:c.682del
ENST00000571680.1:c.717del ENSP00000461626.1:p.Arg240GlyfsTer?
NM_000212.2:c.717del , LRG_481t1:c.717del NP_000203.2:p.Arg240GlyfsTer?
NM_000212.3:c.717del MANE Select NP_000203.2:p.Arg240GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'