Canonical Allele Identifier: CA1400714851

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481689_128481693delinsGCGCT , CM000665.2:g.128481689_128481693delinsGCGCT	GRCh38
NC_000003.11:g.128200532_128200536delinsGCGCT , CM000665.1:g.128200532_128200536delinsGCGCT	GRCh37
NC_000003.10:g.129683222_129683226delinsGCGCT	NCBI36
NG_029334.1:g.16495_16499delinsAGCGC , LRG_295:g.16495_16499delinsAGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+126_1143+130delinsAGCGC MANE Plus Clinical	ENSP00000417074.1:n.1143+126_1143+130delinsAGCGC
ENST00000696466.1:c.1425+126_1425+130delinsAGCGC	ENSP00000512647.1:n.1425+126_1425+130delinsAGCGC
ENST00000696672.1:c.126+126_126+130delinsAGCGC	ENSP00000512796.1:n.126+126_126+130delinsAGCGC
ENST00000341105.7:c.1143+126_1143+130delinsAGCGC MANE Select	ENSP00000345681.2:n.1143+126_1143+130delinsAGCGC
ENST00000341105.6:c.1143+126_1143+130delinsAGCGC	ENSP00000345681.2:n.1143+126_1143+130delinsAGCGC
ENST00000430265.6:c.1101+126_1101+130delinsAGCGC	ENSP00000400259.2:n.1101+126_1101+130delinsAGCGC
ENST00000487848.5:c.1143+126_1143+130delinsAGCGC	ENSP00000417074.1:n.1143+126_1143+130delinsAGCGC
ENST00000489987.1:n.260+126_260+130delinsAGCGC
NM_001145661.1:c.1143+126_1143+130delinsAGCGC , LRG_295t1:c.1143+126_1143+130delinsAGCGC	NP_001139133.1:n.1143+126_1143+130delinsAGCGC
NM_001145662.1:c.1101+126_1101+130delinsAGCGC	NP_001139134.1:n.1101+126_1101+130delinsAGCGC
NM_032638.4:c.1143+126_1143+130delinsAGCGC , LRG_295t2:c.1143+126_1143+130delinsAGCGC	NP_116027.2:n.1143+126_1143+130delinsAGCGC
NM_001145661.2:c.1143+126_1143+130delinsAGCGC MANE Plus Clinical	NP_001139133.1:n.1143+126_1143+130delinsAGCGC
NM_032638.5:c.1143+126_1143+130delinsAGCGC MANE Select	NP_116027.2:n.1143+126_1143+130delinsAGCGC