Canonical Allele Identifier: CA772535660

Gene: ITGB3

Linked Data

• dbSNP Id: rs1215139584
• gnomAD v3: 17-47283752-TTACTG-T
• gnomAD v4: 17-47283752-TTACTG-T
• MyVariant Identifiers: chr17:g.45361119_45361123del (hg19) ; chr17:g.47283753_47283757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47283755_47283759del , CM000679.2:g.47283755_47283759del	GRCh38
NC_000017.10:g.45361121_45361125del , CM000679.1:g.45361121_45361125del	GRCh37
NC_000017.9:g.42716120_42716124del	NCBI36
NG_008332.2:g.34914_34918del , LRG_481:g.34914_34918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.361+206_361+210del	ENSP00000513002.1:n.361+206_361+210del
ENST00000559488.7:c.361+206_361+210del MANE Select	ENSP00000452786.2:n.361+206_361+210del
ENST00000559488.5:c.361+206_361+210del	ENSP00000452786.1:n.361+206_361+210del
ENST00000560629.1:c.326+206_326+210del
ENST00000571680.1:c.361+206_361+210del	ENSP00000461626.1:n.361+206_361+210del
NM_000212.2:c.361+206_361+210del , LRG_481t1:c.361+206_361+210del	NP_000203.2:n.361+206_361+210del
NM_000212.3:c.361+206_361+210del MANE Select	NP_000203.2:n.361+206_361+210del