Canonical Allele Identifier: CA2499216442
Community Standard Title: NM_032638.5(GATA2):c.1021_1031del (p.Ala341SerfsTer?)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481932_128481942del , CM000665.2:g.128481932_128481942del GRCh38
NC_000003.11:g.128200775_128200785del , CM000665.1:g.128200775_128200785del GRCh37
NC_000003.10:g.129683465_129683475del NCBI36
NG_029334.1:g.16247_16257del , LRG_295:g.16247_16257del

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.1021_1031del MANE Select NP_116027.2:p.Ala341SerfsTer?
ENST00000341105.7:c.1021_1031del MANE Select ENSP00000345681.2:p.Ala341SerfsTer?
NM_001145661.2:c.1021_1031del MANE Plus Clinical NP_001139133.1:p.Ala341SerfsTer?
ENST00000487848.6:c.1021_1031del MANE Plus Clinical ENSP00000417074.1:p.Ala341SerfsTer?
NM_001145661.1:c.1021_1031del , LRG_295t1:c.1021_1031del NP_001139133.1:p.Ala341SerfsTer?
NM_001145662.1:c.1018-39_1018-29del NP_001139134.1:n.1018-39_1018-29del
NM_032638.4:c.1021_1031del , LRG_295t2:c.1021_1031del NP_116027.2:p.Ala341SerfsTer?
ENST00000341105.6:c.1021_1031del ENSP00000345681.2:p.Ala341SerfsTer?
ENST00000430265.6:c.1018-39_1018-29del ENSP00000400259.2:n.1018-39_1018-29del
ENST00000487848.5:c.1021_1031del ENSP00000417074.1:p.Ala341SerfsTer?
ENST00000489987.1:n.138_148del
ENST00000696466.1:c.1303_1313del ENSP00000512647.1:p.Ala435SerfsTer?
ENST00000696672.1:c.4_14del ENSP00000512796.1:p.Ala2SerfsTer?