Canonical Allele Identifier: CA2695211808
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058580del , CM000672.2:g.8058580del GRCh38
NC_000010.10:g.8100543del , CM000672.1:g.8100543del GRCh37
NC_000010.9:g.8140549del NCBI36
NG_015859.1:g.8877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.517del ENSP00000341619.3:p.Ala173ProfsTer22
ENST00000379328.9:c.517del MANE Select ENSP00000368632.3:p.Ala173ProfsTer22
ENST00000346208.3:c.517del ENSP00000341619.3:p.Ala173ProfsTer22
ENST00000379328.7:c.517del ENSP00000368632.3:p.Ala173ProfsTer22
ENST00000461472.1:n.182del
NM_001002295.1:c.517del NP_001002295.1:p.Ala173ProfsTer22
NM_002051.2:c.517del NP_002042.1:p.Ala173ProfsTer22
XM_005252442.2:c.517del XP_005252499.1:p.Ala173ProfsTer22
XM_005252443.3:c.517del XP_005252500.1:p.Ala173ProfsTer22
XM_005252443.5:c.517del XP_005252500.1:p.Ala173ProfsTer22
NM_001002295.2:c.517del MANE Select NP_001002295.1:p.Ala173ProfsTer22
NM_002051.3:c.517del NP_002042.1:p.Ala173ProfsTer22