Canonical Allele Identifier: CA2720986017
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131489730

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058567del , CM000672.2:g.8058567del GRCh38
NC_000010.10:g.8100530del , CM000672.1:g.8100530del GRCh37
NC_000010.9:g.8140536del NCBI36
NG_015859.1:g.8864del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.504del ENSP00000341619.3:p.Thr169ProfsTer26
ENST00000379328.9:c.504del MANE Select ENSP00000368632.3:p.Thr169ProfsTer26
ENST00000346208.3:c.504del ENSP00000341619.3:p.Thr169ProfsTer26
ENST00000379328.7:c.504del ENSP00000368632.3:p.Thr169ProfsTer26
ENST00000461472.1:n.169del
NM_001002295.1:c.504del NP_001002295.1:p.Thr169ProfsTer26
NM_002051.2:c.504del NP_002042.1:p.Thr169ProfsTer26
XM_005252442.2:c.504del XP_005252499.1:p.Thr169ProfsTer26
XM_005252443.3:c.504del XP_005252500.1:p.Thr169ProfsTer26
XM_005252443.5:c.504del XP_005252500.1:p.Thr169ProfsTer26
NM_001002295.2:c.504del MANE Select NP_001002295.1:p.Thr169ProfsTer26
NM_002051.3:c.504del NP_002042.1:p.Thr169ProfsTer26