Canonical Allele Identifier: CA2580610819
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058709_8058712del , CM000672.2:g.8058709_8058712del GRCh38
NC_000010.10:g.8100672_8100675del , CM000672.1:g.8100672_8100675del GRCh37
NC_000010.9:g.8140678_8140681del NCBI36
NG_015859.1:g.9006_9009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.646_649del ENSP00000341619.3:p.His216ThrfsTer?
ENST00000379328.9:c.646_649del MANE Select ENSP00000368632.3:p.His216ThrfsTer?
ENST00000346208.3:c.646_649del ENSP00000341619.3:p.His216ThrfsTer?
ENST00000379328.7:c.646_649del ENSP00000368632.3:p.His216ThrfsTer?
ENST00000461472.1:n.311_314del
NM_001002295.1:c.646_649del NP_001002295.1:p.His216ThrfsTer?
NM_002051.2:c.646_649del NP_002042.1:p.His216ThrfsTer?
XM_005252442.2:c.646_649del XP_005252499.1:p.His216ThrfsTer?
XM_005252443.3:c.646_649del XP_005252500.1:p.His216ThrfsTer?
XM_005252443.5:c.646_649del XP_005252500.1:p.His216ThrfsTer?
NM_001002295.2:c.646_649del MANE Select NP_001002295.1:p.His216ThrfsTer?
NM_002051.3:c.646_649del NP_002042.1:p.His216ThrfsTer?