Canonical Allele Identifier: CA2832528646

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481881_128481884del , CM000665.2:g.128481881_128481884del	GRCh38
NC_000003.11:g.128200724_128200727del , CM000665.1:g.128200724_128200727del	GRCh37
NC_000003.10:g.129683414_129683417del	NCBI36
NG_029334.1:g.16304_16307del , LRG_295:g.16304_16307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1078_1081del MANE Plus Clinical	ENSP00000417074.1:p.Trp360AlafsTer26
ENST00000696466.1:c.1360_1363del	ENSP00000512647.1:p.Trp454AlafsTer26
ENST00000696672.1:c.61_64del	ENSP00000512796.1:p.Trp21AlafsTer?
ENST00000341105.7:c.1078_1081del MANE Select	ENSP00000345681.2:p.Trp360AlafsTer26
ENST00000341105.6:c.1078_1081del	ENSP00000345681.2:p.Trp360AlafsTer26
ENST00000430265.6:c.1036_1039del	ENSP00000400259.2:p.Trp346AlafsTer26
ENST00000487848.5:c.1078_1081del	ENSP00000417074.1:p.Trp360AlafsTer26
ENST00000489987.1:n.195_198del
NM_001145661.1:c.1078_1081del , LRG_295t1:c.1078_1081del	NP_001139133.1:p.Trp360AlafsTer26
NM_001145662.1:c.1036_1039del	NP_001139134.1:p.Trp346AlafsTer26
NM_032638.4:c.1078_1081del , LRG_295t2:c.1078_1081del	NP_116027.2:p.Trp360AlafsTer26
NM_001145661.2:c.1078_1081del MANE Plus Clinical	NP_001139133.1:p.Trp360AlafsTer26
NM_032638.5:c.1078_1081del MANE Select	NP_116027.2:p.Trp360AlafsTer26