Canonical Allele Identifier: CA1400717274

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483796_128483816delinsCCCTGTAATTAACCGCCAGCT , CM000665.2:g.128483796_128483816delinsCCCTGTAATTAACCGCCAGCT	GRCh38
NC_000003.11:g.128202639_128202659delinsCCCTGTAATTAACCGCCAGCT , CM000665.1:g.128202639_128202659delinsCCCTGTAATTAACCGCCAGCT	GRCh37
NC_000003.10:g.129685329_129685349delinsCCCTGTAATTAACCGCCAGCT	NCBI36
NG_029334.1:g.14372_14392delinsAGCTGGCGGTTAATTACAGGG , LRG_295:g.14372_14392delinsAGCTGGCGGTTAATTACAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG MANE Plus Clinical	ENSP00000417074.1:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGG...
ENST00000696466.1:c.1299+44_1299+64delinsAGCTGGCGGTTAATTACAGGG	ENSP00000512647.1:n.1299+44_1299+64delinsAGCTGGCGGTTAATTACAGG...
ENST00000341105.7:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG MANE Select	ENSP00000345681.2:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGG...
ENST00000341105.6:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	ENSP00000345681.2:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGG...
ENST00000430265.6:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	ENSP00000400259.2:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGG...
ENST00000487848.5:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	ENSP00000417074.1:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGG...
NM_001145661.1:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG , LRG_295t1:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	NP_001139133.1:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG
NM_001145662.1:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	NP_001139134.1:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG
NM_032638.4:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG , LRG_295t2:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG	NP_116027.2:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG
NM_001145661.2:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG MANE Plus Clinical	NP_001139133.1:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG
NM_032638.5:c.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG MANE Select	NP_116027.2:n.1017+44_1017+64delinsAGCTGGCGGTTAATTACAGGG