Canonical Allele Identifier: CA2712538

Gene: GNB4

Linked Data

• dbSNP Id: rs530607950
• ExAC: 3:179134371 TGA / T
• gnomAD v2: 3-179134371-TGA-T
• gnomAD v3: 3-179416583-TGA-T
• gnomAD v4: 3-179416583-TGA-T
• MyVariant Identifiers: chr3:g.179134372_179134373del (hg19) ; chr3:g.179416584_179416585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179416584_179416585del , CM000665.2:g.179416584_179416585del	GRCh38
NC_000003.11:g.179134372_179134373del , CM000665.1:g.179134372_179134373del	GRCh37
NC_000003.10:g.180617066_180617067del	NCBI36
NG_033163.1:g.39999_40000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232564.8:c.204-29_204-28del MANE Select	ENSP00000232564.3:n.204-29_204-28del
ENST00000465153.2:c.204-29_204-28del	ENSP00000502010.1:n.204-29_204-28del
ENST00000466899.6:c.204-29_204-28del	ENSP00000420066.2:n.204-29_204-28del
ENST00000468623.6:c.165-29_165-28del	ENSP00000419693.2:n.165-29_165-28del
ENST00000674713.1:c.96-29_96-28del	ENSP00000502144.1:n.96-29_96-28del
ENST00000674862.1:c.204-29_204-28del	ENSP00000502628.1:n.204-29_204-28del
ENST00000674927.1:c.204-29_204-28del	ENSP00000501774.1:n.204-29_204-28del
ENST00000675901.1:c.204-29_204-28del	ENSP00000501992.1:n.204-29_204-28del
ENST00000676128.1:c.204-29_204-28del	ENSP00000501882.1:n.204-29_204-28del
ENST00000232564.7:c.204-29_204-28del	ENSP00000232564.3:n.204-29_204-28del
ENST00000468623.5:c.204-29_204-28del	ENSP00000419693.1:n.204-29_204-28del
ENST00000497513.1:c.204-29_204-28del	ENSP00000420606.1:n.204-29_204-28del
NM_021629.3:c.204-29_204-28del	NP_067642.1:n.204-29_204-28del
XM_005247692.1:c.204-29_204-28del	XP_005247749.1:n.204-29_204-28del
XM_006713721.1:c.204-29_204-28del	XP_006713784.1:n.204-29_204-28del
XM_011513061.1:c.204-29_204-28del	XP_011511363.1:n.204-29_204-28del
XM_005247692.2:c.204-29_204-28del	XP_005247749.1:n.204-29_204-28del
XM_006713721.2:c.204-29_204-28del	XP_006713784.1:n.204-29_204-28del
NM_021629.4:c.204-29_204-28del MANE Select	NP_067642.1:n.204-29_204-28del