Canonical Allele Identifier: CA1400714968

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481796_128481802delinsTGGCCGG , CM000665.2:g.128481796_128481802delinsTGGCCGG	GRCh38
NC_000003.11:g.128200639_128200645delinsTGGCCGG , CM000665.1:g.128200639_128200645delinsTGGCCGG	GRCh37
NC_000003.10:g.129683329_129683335delinsTGGCCGG	NCBI36
NG_029334.1:g.16386_16392delinsCCGGCCA , LRG_295:g.16386_16392delinsCCGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+17_1143+23delinsCCGGCCA MANE Plus Clinical	ENSP00000417074.1:n.1143+17_1143+23delinsCCGGCCA
ENST00000696466.1:c.1425+17_1425+23delinsCCGGCCA	ENSP00000512647.1:n.1425+17_1425+23delinsCCGGCCA
ENST00000696672.1:c.126+17_126+23delinsCCGGCCA	ENSP00000512796.1:n.126+17_126+23delinsCCGGCCA
ENST00000341105.7:c.1143+17_1143+23delinsCCGGCCA MANE Select	ENSP00000345681.2:n.1143+17_1143+23delinsCCGGCCA
ENST00000341105.6:c.1143+17_1143+23delinsCCGGCCA	ENSP00000345681.2:n.1143+17_1143+23delinsCCGGCCA
ENST00000430265.6:c.1101+17_1101+23delinsCCGGCCA	ENSP00000400259.2:n.1101+17_1101+23delinsCCGGCCA
ENST00000487848.5:c.1143+17_1143+23delinsCCGGCCA	ENSP00000417074.1:n.1143+17_1143+23delinsCCGGCCA
ENST00000489987.1:n.260+17_260+23delinsCCGGCCA
NM_001145661.1:c.1143+17_1143+23delinsCCGGCCA , LRG_295t1:c.1143+17_1143+23delinsCCGGCCA	NP_001139133.1:n.1143+17_1143+23delinsCCGGCCA
NM_001145662.1:c.1101+17_1101+23delinsCCGGCCA	NP_001139134.1:n.1101+17_1101+23delinsCCGGCCA
NM_032638.4:c.1143+17_1143+23delinsCCGGCCA , LRG_295t2:c.1143+17_1143+23delinsCCGGCCA	NP_116027.2:n.1143+17_1143+23delinsCCGGCCA
NM_001145661.2:c.1143+17_1143+23delinsCCGGCCA MANE Plus Clinical	NP_001139133.1:n.1143+17_1143+23delinsCCGGCCA
NM_032638.5:c.1143+17_1143+23delinsCCGGCCA MANE Select	NP_116027.2:n.1143+17_1143+23delinsCCGGCCA