Canonical Allele Identifier: CA916083123
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 694354
ClinVar RCV Id: RCV001078192
dbSNP Id: rs1832680700

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058387del , CM000672.2:g.8058387del GRCh38
NC_000010.10:g.8100350del , CM000672.1:g.8100350del GRCh37
NC_000010.9:g.8140356del NCBI36
NG_015859.1:g.8684del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.324del ENSP00000341619.3:p.Ala109ProfsTer?
ENST00000379328.9:c.324del MANE Select ENSP00000368632.3:p.Ala109ProfsTer?
ENST00000481743.2:c.324del ENSP00000493486.1:p.Ala109ProfsTer?
ENST00000346208.3:c.324del ENSP00000341619.3:p.Ala109ProfsTer?
ENST00000379328.7:c.324del ENSP00000368632.3:p.Ala109ProfsTer?
NM_001002295.1:c.324del NP_001002295.1:p.Ala109ProfsTer?
NM_002051.2:c.324del NP_002042.1:p.Ala109ProfsTer?
XM_005252442.2:c.324del XP_005252499.1:p.Ala109ProfsTer?
XM_005252443.3:c.324del XP_005252500.1:p.Ala109ProfsTer?
XM_005252443.5:c.324del XP_005252500.1:p.Ala109ProfsTer?
NM_001002295.2:c.324del MANE Select NP_001002295.1:p.Ala109ProfsTer?
NM_002051.3:c.324del NP_002042.1:p.Ala109ProfsTer?