Canonical Allele Identifier: CA2697558252

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2703759
• ClinVar RCV Id: RCV003579482

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058631dup , CM000672.2:g.8058631dup	GRCh38
NC_000010.10:g.8100594dup , CM000672.1:g.8100594dup	GRCh37
NC_000010.9:g.8140600dup	NCBI36
NG_015859.1:g.8928dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.568dup	ENSP00000341619.3:p.Leu190ProfsTer?
ENST00000379328.9:c.568dup MANE Select	ENSP00000368632.3:p.Leu190ProfsTer?
ENST00000346208.3:c.568dup	ENSP00000341619.3:p.Leu190ProfsTer?
ENST00000379328.7:c.568dup	ENSP00000368632.3:p.Leu190ProfsTer?
ENST00000461472.1:n.233dup
NM_001002295.1:c.568dup	NP_001002295.1:p.Leu190ProfsTer?
NM_002051.2:c.568dup	NP_002042.1:p.Leu190ProfsTer?
XM_005252442.2:c.568dup	XP_005252499.1:p.Leu190ProfsTer?
XM_005252443.3:c.568dup	XP_005252500.1:p.Leu190ProfsTer?
XM_005252443.5:c.568dup	XP_005252500.1:p.Leu190ProfsTer?
NM_001002295.2:c.568dup MANE Select	NP_001002295.1:p.Leu190ProfsTer?
NM_002051.3:c.568dup	NP_002042.1:p.Leu190ProfsTer?