Canonical Allele Identifier: CA2739291314
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058744del , CM000672.2:g.8058744del GRCh38
NC_000010.10:g.8100707del , CM000672.1:g.8100707del GRCh37
NC_000010.9:g.8140713del NCBI36
NG_015859.1:g.9041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.681del ENSP00000341619.3:p.Glu228SerfsTer?
ENST00000379328.9:c.681del MANE Select ENSP00000368632.3:p.Glu228SerfsTer?
ENST00000346208.3:c.681del ENSP00000341619.3:p.Glu228SerfsTer?
ENST00000379328.7:c.681del ENSP00000368632.3:p.Glu228SerfsTer?
ENST00000461472.1:n.346del
NM_001002295.1:c.681del NP_001002295.1:p.Glu228SerfsTer?
NM_002051.2:c.681del NP_002042.1:p.Glu228SerfsTer?
XM_005252442.2:c.681del XP_005252499.1:p.Glu228SerfsTer?
XM_005252443.3:c.681del XP_005252500.1:p.Glu228SerfsTer?
XM_005252443.5:c.681del XP_005252500.1:p.Glu228SerfsTer?
NM_001002295.2:c.681del MANE Select NP_001002295.1:p.Glu228SerfsTer?
NM_002051.3:c.681del NP_002042.1:p.Glu228SerfsTer?