Canonical Allele Identifier: CA1400716704

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483239_128483246delinsAGCGAGAG , CM000665.2:g.128483239_128483246delinsAGCGAGAG	GRCh38
NC_000003.11:g.128202082_128202089delinsAGCGAGAG , CM000665.1:g.128202082_128202089delinsAGCGAGAG	GRCh37
NC_000003.10:g.129684772_129684779delinsAGCGAGAG	NCBI36
NG_029334.1:g.14942_14949delinsCTCTCGCT , LRG_295:g.14942_14949delinsCTCTCGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+614_1017+621delinsCTCTCGCT MANE Plus Clinical	ENSP00000417074.1:n.1017+614_1017+621deli...
ENST00000696466.1:c.1299+614_1299+621delinsCTCTCGCT	ENSP00000512647.1:n.1299+614_1299+621deli...
ENST00000341105.7:c.1017+614_1017+621delinsCTCTCGCT MANE Select	ENSP00000345681.2:n.1017+614_1017+621deli...
ENST00000341105.6:c.1017+614_1017+621delinsCTCTCGCT	ENSP00000345681.2:n.1017+614_1017+621deli...
ENST00000430265.6:c.1017+614_1017+621delinsCTCTCGCT	ENSP00000400259.2:n.1017+614_1017+621deli...
ENST00000487848.5:c.1017+614_1017+621delinsCTCTCGCT	ENSP00000417074.1:n.1017+614_1017+621deli...
NM_001145661.1:c.1017+614_1017+621delinsCTCTCGCT , LRG_295t1:c.1017+614_1017+621delinsCTCTCGCT	NP_001139133.1:n.1017+614_1017+621delinsC...
NM_001145662.1:c.1017+614_1017+621delinsCTCTCGCT	NP_001139134.1:n.1017+614_1017+621delinsC...
NM_032638.4:c.1017+614_1017+621delinsCTCTCGCT , LRG_295t2:c.1017+614_1017+621delinsCTCTCGCT	NP_116027.2:n.1017+614_1017+621delinsCTCT...
NM_001145661.2:c.1017+614_1017+621delinsCTCTCGCT MANE Plus Clinical	NP_001139133.1:n.1017+614_1017+621delinsC...
NM_032638.5:c.1017+614_1017+621delinsCTCTCGCT MANE Select	NP_116027.2:n.1017+614_1017+621delinsCTCT...