Canonical Allele Identifier: CA10581506

Gene: GATA3

Linked Data

• ClinVar Variation Id: 236031
• ClinVar RCV Id: RCV000225007
• dbSNP Id: rs878853222
• MyVariant Identifiers: chr10:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (hg19) ; chr10:g.8058744_8058745insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058744_8058745insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC , CM000672.2:g.8058744_8058745insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	GRCh38
NC_000010.10:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC , CM000672.1:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	GRCh37
NC_000010.9:g.8140713_8140714insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	NCBI36
NG_015859.1:g.9041_9042insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000379328.9:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC MANE Select	ENSP00000368632.3:p.Glu228ThrfsTer?
ENST00000346208.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000379328.7:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	ENSP00000368632.3:p.Glu228ThrfsTer?
ENST00000461472.1:n.346_347insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC
NM_001002295.1:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	NP_001002295.1:p.Glu228ThrfsTer?
NM_002051.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	NP_002042.1:p.Glu228ThrfsTer?
XM_005252442.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	XP_005252499.1:p.Glu228ThrfsTer?
XM_005252443.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	XP_005252500.1:p.Glu228ThrfsTer?
XM_005252443.5:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	XP_005252500.1:p.Glu228ThrfsTer?
NM_001002295.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC MANE Select	NP_001002295.1:p.Glu228ThrfsTer?
NM_002051.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC	NP_002042.1:p.Glu228ThrfsTer?