Canonical Allele Identifier: CA626684843

Gene: ITGB3

Linked Data

• dbSNP Id: rs1165452651
• gnomAD v2: 17-45363761-T-TGTA
• gnomAD v4: 17-47286395-T-TGTA
• MyVariant Identifiers: chr17:g.45363761_45363762insGTA (hg19) ; chr17:g.47286395_47286396insGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47286396_47286397insTAG , CM000679.2:g.47286396_47286397insTAG	GRCh38
NC_000017.10:g.45363762_45363763insTAG , CM000679.1:g.45363762_45363763insTAG	GRCh37
NC_000017.9:g.42718761_42718762insTAG	NCBI36
NG_008332.2:g.37555_37556insTAG , LRG_481:g.37555_37556insTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.751_752insTAG	ENSP00000513002.1:p.Asp250_Ala251insVal
ENST00000559488.7:c.751_752insTAG MANE Select	ENSP00000452786.2:p.Asp250_Ala251insVal
ENST00000559488.5:c.751_752insTAG	ENSP00000452786.1:p.Asp250_Ala251insVal
ENST00000560629.1:c.716_717insTAG
ENST00000571680.1:c.751_752insTAG	ENSP00000461626.1:p.Asp250_Ala251insVal
NM_000212.2:c.751_752insTAG , LRG_481t1:c.751_752insTAG	NP_000203.2:p.Asp250_Ala251insVal
NM_000212.3:c.751_752insTAG MANE Select	NP_000203.2:p.Asp250_Ala251insVal