Canonical Allele Identifier: CA913184947
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16628
ClinVar RCV Id: RCV000018107
dbSNP Id: rs1588378126

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058541del , CM000672.2:g.8058541del GRCh38
NC_000010.10:g.8100504del , CM000672.1:g.8100504del GRCh37
NC_000010.9:g.8140510del NCBI36
NG_015859.1:g.8838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.478del ENSP00000341619.3:p.Asp160ThrfsTer?
ENST00000379328.9:c.478del MANE Select ENSP00000368632.3:p.Asp160ThrfsTer?
ENST00000346208.3:c.478del ENSP00000341619.3:p.Asp160ThrfsTer?
ENST00000379328.7:c.478del ENSP00000368632.3:p.Asp160ThrfsTer?
ENST00000461472.1:n.143del
NM_001002295.1:c.478del NP_001002295.1:p.Asp160ThrfsTer?
NM_002051.2:c.478del NP_002042.1:p.Asp160ThrfsTer?
XM_005252442.2:c.478del XP_005252499.1:p.Asp160ThrfsTer?
XM_005252443.3:c.478del XP_005252500.1:p.Asp160ThrfsTer?
XM_005252443.5:c.478del XP_005252500.1:p.Asp160ThrfsTer?
NM_001002295.2:c.478del MANE Select NP_001002295.1:p.Asp160ThrfsTer?
NM_002051.3:c.478del NP_002042.1:p.Asp160ThrfsTer?