Canonical Allele Identifier: CA1400714823

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481671_128481674delinsTTAC , CM000665.2:g.128481671_128481674delinsTTAC	GRCh38
NC_000003.11:g.128200514_128200517delinsTTAC , CM000665.1:g.128200514_128200517delinsTTAC	GRCh37
NC_000003.10:g.129683204_129683207delinsTTAC	NCBI36
NG_029334.1:g.16514_16517delinsGTAA , LRG_295:g.16514_16517delinsGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+145_1143+148delinsGTAA MANE Plus Clinical	ENSP00000417074.1:n.1143+145_1143+148delinsGTAA
ENST00000696466.1:c.1425+145_1425+148delinsGTAA	ENSP00000512647.1:n.1425+145_1425+148delinsGTAA
ENST00000696672.1:c.126+145_126+148delinsGTAA	ENSP00000512796.1:n.126+145_126+148delinsGTAA
ENST00000341105.7:c.1143+145_1143+148delinsGTAA MANE Select	ENSP00000345681.2:n.1143+145_1143+148delinsGTAA
ENST00000341105.6:c.1143+145_1143+148delinsGTAA	ENSP00000345681.2:n.1143+145_1143+148delinsGTAA
ENST00000430265.6:c.1101+145_1101+148delinsGTAA	ENSP00000400259.2:n.1101+145_1101+148delinsGTAA
ENST00000487848.5:c.1143+145_1143+148delinsGTAA	ENSP00000417074.1:n.1143+145_1143+148delinsGTAA
ENST00000489987.1:n.260+145_260+148delinsGTAA
NM_001145661.1:c.1143+145_1143+148delinsGTAA , LRG_295t1:c.1143+145_1143+148delinsGTAA	NP_001139133.1:n.1143+145_1143+148delinsGTAA
NM_001145662.1:c.1101+145_1101+148delinsGTAA	NP_001139134.1:n.1101+145_1101+148delinsGTAA
NM_032638.4:c.1143+145_1143+148delinsGTAA , LRG_295t2:c.1143+145_1143+148delinsGTAA	NP_116027.2:n.1143+145_1143+148delinsGTAA
NM_001145661.2:c.1143+145_1143+148delinsGTAA MANE Plus Clinical	NP_001139133.1:n.1143+145_1143+148delinsGTAA
NM_032638.5:c.1143+145_1143+148delinsGTAA MANE Select	NP_116027.2:n.1143+145_1143+148delinsGTAA