Canonical Allele Identifier: CA2262605400

Gene: ITGB3

Linked Data

• dbSNP Id: rs2065096884
• gnomAD v4: 17-47284778-T-TCACTTTGTTGGCTGTCTTCTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284781_47284803dup , CM000679.2:g.47284781_47284803dup	GRCh38
NC_000017.10:g.45362147_45362169dup , CM000679.1:g.45362147_45362169dup	GRCh37
NC_000017.9:g.42717146_42717168dup	NCBI36
NG_008332.2:g.35940_35962dup , LRG_481:g.35940_35962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.614+86_614+108dup	ENSP00000513002.1:n.614+86_614+108dup
ENST00000559488.7:c.614+86_614+108dup MANE Select	ENSP00000452786.2:n.614+86_614+108dup
ENST00000559488.5:c.614+86_614+108dup	ENSP00000452786.1:n.614+86_614+108dup
ENST00000560629.1:c.579+86_579+108dup
ENST00000571680.1:c.614+86_614+108dup	ENSP00000461626.1:n.614+86_614+108dup
NM_000212.2:c.614+86_614+108dup , LRG_481t1:c.614+86_614+108dup	NP_000203.2:n.614+86_614+108dup
NM_000212.3:c.614+86_614+108dup MANE Select	NP_000203.2:n.614+86_614+108dup