Canonical Allele Identifier: CA2638437202
Gene: ITGB3 HGNC NCBI

Linked Data

gnomAD v4: 17-47300486-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47300488del , CM000679.2:g.47300488del GRCh38
NC_000017.10:g.45377854del , CM000679.1:g.45377854del GRCh37
NC_000017.9:g.42732853del NCBI36
NG_008332.2:g.51647del , LRG_481:g.51647del

Transcript Alleles

HGVS Amino-acid change
ENST00000696963.1:c.1924del ENSP00000513002.1:p.Glu642SerfsTer27
ENST00000559488.7:c.1924del MANE Select ENSP00000452786.2:p.Glu642SerfsTer27
ENST00000559488.5:c.1924del ENSP00000452786.1:p.Glu642SerfsTer27
ENST00000560629.1:c.1889del
NM_000212.2:c.1924del , LRG_481t1:c.1924del NP_000203.2:p.Glu642SerfsTer27
NM_000212.3:c.1924del MANE Select NP_000203.2:p.Glu642SerfsTer27
Search 100 bp 5'
Search 100 bp 3'