Canonical Allele Identifier: CA8622897

Gene: ITGB3

Linked Data

• dbSNP Id: rs764129001
• ExAC: 17:45360758 G / GA
• gnomAD v2: 17-45360758-G-GA
• gnomAD v4: 17-47283392-G-GA
• MyVariant Identifiers: chr17:g.45360758_45360759insA (hg19) ; chr17:g.47283392_47283393insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47283394dup , CM000679.2:g.47283394dup	GRCh38
NC_000017.10:g.45360760dup , CM000679.1:g.45360760dup	GRCh37
NC_000017.9:g.42715759dup	NCBI36
NG_008332.2:g.34553dup , LRG_481:g.34553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.206dup	ENSP00000513002.1:p.Asn69LysfsTer6
ENST00000559488.7:c.206dup MANE Select	ENSP00000452786.2:p.Asn69LysfsTer6
ENST00000559488.5:c.206dup	ENSP00000452786.1:p.Asn69LysfsTer6
ENST00000560629.1:c.171dup
ENST00000571680.1:c.206dup	ENSP00000461626.1:p.Asn69LysfsTer6
NM_000212.2:c.206dup , LRG_481t1:c.206dup	NP_000203.2:p.Asn69LysfsTer6
NM_000212.3:c.206dup MANE Select	NP_000203.2:p.Asn69LysfsTer6