Canonical Allele Identifier: CA1400714834

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481675_128481679delinsGGGAA , CM000665.2:g.128481675_128481679delinsGGGAA	GRCh38
NC_000003.11:g.128200518_128200522delinsGGGAA , CM000665.1:g.128200518_128200522delinsGGGAA	GRCh37
NC_000003.10:g.129683208_129683212delinsGGGAA	NCBI36
NG_029334.1:g.16509_16513delinsTTCCC , LRG_295:g.16509_16513delinsTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+140_1143+144delinsTTCCC MANE Plus Clinical	ENSP00000417074.1:n.1143+140_1143+144delinsTTCCC
ENST00000696466.1:c.1425+140_1425+144delinsTTCCC	ENSP00000512647.1:n.1425+140_1425+144delinsTTCCC
ENST00000696672.1:c.126+140_126+144delinsTTCCC	ENSP00000512796.1:n.126+140_126+144delinsTTCCC
ENST00000341105.7:c.1143+140_1143+144delinsTTCCC MANE Select	ENSP00000345681.2:n.1143+140_1143+144delinsTTCCC
ENST00000341105.6:c.1143+140_1143+144delinsTTCCC	ENSP00000345681.2:n.1143+140_1143+144delinsTTCCC
ENST00000430265.6:c.1101+140_1101+144delinsTTCCC	ENSP00000400259.2:n.1101+140_1101+144delinsTTCCC
ENST00000487848.5:c.1143+140_1143+144delinsTTCCC	ENSP00000417074.1:n.1143+140_1143+144delinsTTCCC
ENST00000489987.1:n.260+140_260+144delinsTTCCC
NM_001145661.1:c.1143+140_1143+144delinsTTCCC , LRG_295t1:c.1143+140_1143+144delinsTTCCC	NP_001139133.1:n.1143+140_1143+144delinsTTCCC
NM_001145662.1:c.1101+140_1101+144delinsTTCCC	NP_001139134.1:n.1101+140_1101+144delinsTTCCC
NM_032638.4:c.1143+140_1143+144delinsTTCCC , LRG_295t2:c.1143+140_1143+144delinsTTCCC	NP_116027.2:n.1143+140_1143+144delinsTTCCC
NM_001145661.2:c.1143+140_1143+144delinsTTCCC MANE Plus Clinical	NP_001139133.1:n.1143+140_1143+144delinsTTCCC
NM_032638.5:c.1143+140_1143+144delinsTTCCC MANE Select	NP_116027.2:n.1143+140_1143+144delinsTTCCC