Canonical Allele Identifier: CA1400716737

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483259_128483262delinsTGAG , CM000665.2:g.128483259_128483262delinsTGAG	GRCh38
NC_000003.11:g.128202102_128202105delinsTGAG , CM000665.1:g.128202102_128202105delinsTGAG	GRCh37
NC_000003.10:g.129684792_129684795delinsTGAG	NCBI36
NG_029334.1:g.14926_14929delinsCTCA , LRG_295:g.14926_14929delinsCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+598_1017+601delinsCTCA MANE Plus Clinical	ENSP00000417074.1:n.1017+598_1017+601deli...
ENST00000696466.1:c.1299+598_1299+601delinsCTCA	ENSP00000512647.1:n.1299+598_1299+601deli...
ENST00000341105.7:c.1017+598_1017+601delinsCTCA MANE Select	ENSP00000345681.2:n.1017+598_1017+601deli...
ENST00000341105.6:c.1017+598_1017+601delinsCTCA	ENSP00000345681.2:n.1017+598_1017+601deli...
ENST00000430265.6:c.1017+598_1017+601delinsCTCA	ENSP00000400259.2:n.1017+598_1017+601deli...
ENST00000487848.5:c.1017+598_1017+601delinsCTCA	ENSP00000417074.1:n.1017+598_1017+601deli...
NM_001145661.1:c.1017+598_1017+601delinsCTCA , LRG_295t1:c.1017+598_1017+601delinsCTCA	NP_001139133.1:n.1017+598_1017+601delinsC...
NM_001145662.1:c.1017+598_1017+601delinsCTCA	NP_001139134.1:n.1017+598_1017+601delinsC...
NM_032638.4:c.1017+598_1017+601delinsCTCA , LRG_295t2:c.1017+598_1017+601delinsCTCA	NP_116027.2:n.1017+598_1017+601delinsCTCA...
NM_001145661.2:c.1017+598_1017+601delinsCTCA MANE Plus Clinical	NP_001139133.1:n.1017+598_1017+601delinsC...
NM_032638.5:c.1017+598_1017+601delinsCTCA MANE Select	NP_116027.2:n.1017+598_1017+601delinsCTCA...