Canonical Allele Identifier: CA1400717189

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483718_128483723delinsCAACTG , CM000665.2:g.128483718_128483723delinsCAACTG	GRCh38
NC_000003.11:g.128202561_128202566delinsCAACTG , CM000665.1:g.128202561_128202566delinsCAACTG	GRCh37
NC_000003.10:g.129685251_129685256delinsCAACTG	NCBI36
NG_029334.1:g.14465_14470delinsCAGTTG , LRG_295:g.14465_14470delinsCAGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+137_1017+142delinsCAGTTG MANE Plus Clinical	ENSP00000417074.1:n.1017+137_1017+142delinsCAGTTG
ENST00000696466.1:c.1299+137_1299+142delinsCAGTTG	ENSP00000512647.1:n.1299+137_1299+142delinsCAGTTG
ENST00000341105.7:c.1017+137_1017+142delinsCAGTTG MANE Select	ENSP00000345681.2:n.1017+137_1017+142delinsCAGTTG
ENST00000341105.6:c.1017+137_1017+142delinsCAGTTG	ENSP00000345681.2:n.1017+137_1017+142delinsCAGTTG
ENST00000430265.6:c.1017+137_1017+142delinsCAGTTG	ENSP00000400259.2:n.1017+137_1017+142delinsCAGTTG
ENST00000487848.5:c.1017+137_1017+142delinsCAGTTG	ENSP00000417074.1:n.1017+137_1017+142delinsCAGTTG
NM_001145661.1:c.1017+137_1017+142delinsCAGTTG , LRG_295t1:c.1017+137_1017+142delinsCAGTTG	NP_001139133.1:n.1017+137_1017+142delinsCAGTTG
NM_001145662.1:c.1017+137_1017+142delinsCAGTTG	NP_001139134.1:n.1017+137_1017+142delinsCAGTTG
NM_032638.4:c.1017+137_1017+142delinsCAGTTG , LRG_295t2:c.1017+137_1017+142delinsCAGTTG	NP_116027.2:n.1017+137_1017+142delinsCAGTTG
NM_001145661.2:c.1017+137_1017+142delinsCAGTTG MANE Plus Clinical	NP_001139133.1:n.1017+137_1017+142delinsCAGTTG
NM_032638.5:c.1017+137_1017+142delinsCAGTTG MANE Select	NP_116027.2:n.1017+137_1017+142delinsCAGTTG