Canonical Allele Identifier: CA2565929740
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073834_8073835insAC , CM000672.2:g.8073834_8073835insAC GRCh38
NC_000010.10:g.8115797_8115798insAC , CM000672.1:g.8115797_8115798insAC GRCh37
NC_000010.9:g.8155803_8155804insAC NCBI36
NG_015859.1:g.24131_24132insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1143_1144insAC ENSP00000341619.3:p.Leu382ThrfsTer23
ENST00000379328.9:c.1146_1147insAC MANE Select ENSP00000368632.3:p.Leu383ThrfsTer23
ENST00000346208.3:c.1143_1144insAC ENSP00000341619.3:p.Leu382ThrfsTer23
ENST00000379328.7:c.1146_1147insAC ENSP00000368632.3:p.Leu383ThrfsTer23
ENST00000461472.1:n.665_666insAC
NM_001002295.1:c.1146_1147insAC NP_001002295.1:p.Leu383ThrfsTer23
NM_002051.2:c.1143_1144insAC NP_002042.1:p.Leu382ThrfsTer23
XM_005252442.2:c.1146_1147insAC XP_005252499.1:p.Leu383ThrfsTer23
XM_005252443.3:c.1146_1147insAC XP_005252500.1:p.Leu383ThrfsTer23
XM_005252443.5:c.1146_1147insAC XP_005252500.1:p.Leu383ThrfsTer23
NM_001002295.2:c.1146_1147insAC MANE Select NP_001002295.1:p.Leu383ThrfsTer23
NM_002051.3:c.1143_1144insAC NP_002042.1:p.Leu382ThrfsTer23