Canonical Allele Identifier: CA1400716664

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483184_128483193delinsAGCATTTTAC , CM000665.2:g.128483184_128483193delinsAGCATTTTAC	GRCh38
NC_000003.11:g.128202027_128202036delinsAGCATTTTAC , CM000665.1:g.128202027_128202036delinsAGCATTTTAC	GRCh37
NC_000003.10:g.129684717_129684726delinsAGCATTTTAC	NCBI36
NG_029334.1:g.14995_15004delinsGTAAAATGCT , LRG_295:g.14995_15004delinsGTAAAATGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+667_1017+676delinsGTAAAATGCT MANE Plus Clinical	ENSP00000417074.1:n.1017+667_1017+676delinsGTAAAATGCT
ENST00000696466.1:c.1299+667_1299+676delinsGTAAAATGCT	ENSP00000512647.1:n.1299+667_1299+676delinsGTAAAATGCT
ENST00000341105.7:c.1017+667_1017+676delinsGTAAAATGCT MANE Select	ENSP00000345681.2:n.1017+667_1017+676delinsGTAAAATGCT
ENST00000341105.6:c.1017+667_1017+676delinsGTAAAATGCT	ENSP00000345681.2:n.1017+667_1017+676delinsGTAAAATGCT
ENST00000430265.6:c.1017+667_1017+676delinsGTAAAATGCT	ENSP00000400259.2:n.1017+667_1017+676delinsGTAAAATGCT
ENST00000487848.5:c.1017+667_1017+676delinsGTAAAATGCT	ENSP00000417074.1:n.1017+667_1017+676delinsGTAAAATGCT
NM_001145661.1:c.1017+667_1017+676delinsGTAAAATGCT , LRG_295t1:c.1017+667_1017+676delinsGTAAAATGCT	NP_001139133.1:n.1017+667_1017+676delinsGTAAAATGCT
NM_001145662.1:c.1017+667_1017+676delinsGTAAAATGCT	NP_001139134.1:n.1017+667_1017+676delinsGTAAAATGCT
NM_032638.4:c.1017+667_1017+676delinsGTAAAATGCT , LRG_295t2:c.1017+667_1017+676delinsGTAAAATGCT	NP_116027.2:n.1017+667_1017+676delinsGTAAAATGCT
NM_001145661.2:c.1017+667_1017+676delinsGTAAAATGCT MANE Plus Clinical	NP_001139133.1:n.1017+667_1017+676delinsGTAAAATGCT
NM_032638.5:c.1017+667_1017+676delinsGTAAAATGCT MANE Select	NP_116027.2:n.1017+667_1017+676delinsGTAAAATGCT