Canonical Allele Identifier: CA626684842
Gene: ITGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1567764796
gnomAD v2: 17-45363755-CTTTG-C
gnomAD v4: 17-47286389-CTTTG-C
MyVariant Identifiers: chr17:g.45363756_45363759del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286390_47286393del , CM000679.2:g.47286390_47286393del GRCh38
NC_000017.10:g.45363756_45363759del , CM000679.1:g.45363756_45363759del GRCh37
NC_000017.9:g.42718755_42718758del NCBI36
NG_008332.2:g.37549_37552del , LRG_481:g.37549_37552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.745_748del ENSP00000513002.1:p.Phe249MetfsTer?
ENST00000559488.7:c.745_748del MANE Select ENSP00000452786.2:p.Phe249MetfsTer?
ENST00000559488.5:c.745_748del ENSP00000452786.1:p.Phe249MetfsTer?
ENST00000560629.1:c.710_713del
ENST00000571680.1:c.745_748del ENSP00000461626.1:p.Phe249MetfsTer?
NM_000212.2:c.745_748del , LRG_481t1:c.745_748del NP_000203.2:p.Phe249MetfsTer?
NM_000212.3:c.745_748del MANE Select NP_000203.2:p.Phe249MetfsTer?
Search 100 bp 5'
Search 100 bp 3'