Canonical Allele Identifier: CA2580081317

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2498458
• ClinVar RCV Id: RCV003222667

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058710_8058744dup , CM000672.2:g.8058710_8058744dup	GRCh38
NC_000010.10:g.8100673_8100707dup , CM000672.1:g.8100673_8100707dup	GRCh37
NC_000010.9:g.8140679_8140713dup	NCBI36
NG_015859.1:g.9007_9041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.647_681dup	ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000379328.9:c.647_681dup MANE Select	ENSP00000368632.3:p.Glu228ThrfsTer?
ENST00000346208.3:c.647_681dup	ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000379328.7:c.647_681dup	ENSP00000368632.3:p.Glu228ThrfsTer?
ENST00000461472.1:n.312_346dup
NM_001002295.1:c.647_681dup	NP_001002295.1:p.Glu228ThrfsTer?
NM_002051.2:c.647_681dup	NP_002042.1:p.Glu228ThrfsTer?
XM_005252442.2:c.647_681dup	XP_005252499.1:p.Glu228ThrfsTer?
XM_005252443.3:c.647_681dup	XP_005252500.1:p.Glu228ThrfsTer?
XM_005252443.5:c.647_681dup	XP_005252500.1:p.Glu228ThrfsTer?
NM_001002295.2:c.647_681dup MANE Select	NP_001002295.1:p.Glu228ThrfsTer?
NM_002051.3:c.647_681dup	NP_002042.1:p.Glu228ThrfsTer?