Canonical Allele Identifier: CA2262604778

Gene: ITGB3

Linked Data

• dbSNP Id: rs2065090149
• gnomAD v4: 17-47283291-CAGGAGGTAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47283294_47283304del , CM000679.2:g.47283294_47283304del	GRCh38
NC_000017.10:g.45360660_45360670del , CM000679.1:g.45360660_45360670del	GRCh37
NC_000017.9:g.42715659_42715669del	NCBI36
NG_008332.2:g.34453_34463del , LRG_481:g.34453_34463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.166-60_166-50del	ENSP00000513002.1:n.166-60_166-50del
ENST00000559488.7:c.166-60_166-50del MANE Select	ENSP00000452786.2:n.166-60_166-50del
ENST00000559488.5:c.166-60_166-50del	ENSP00000452786.1:n.166-60_166-50del
ENST00000560629.1:c.131-60_131-50del
ENST00000571680.1:c.166-60_166-50del	ENSP00000461626.1:n.166-60_166-50del
NM_000212.2:c.166-60_166-50del , LRG_481t1:c.166-60_166-50del	NP_000203.2:n.166-60_166-50del
NM_000212.3:c.166-60_166-50del MANE Select	NP_000203.2:n.166-60_166-50del