Canonical Allele Identifier: CA2499220402

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1065344
• ClinVar RCV Id: RCV001375869
• dbSNP Id: rs2131488953

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058452del , CM000672.2:g.8058452del	GRCh38
NC_000010.10:g.8100415del , CM000672.1:g.8100415del	GRCh37
NC_000010.9:g.8140421del	NCBI36
NG_015859.1:g.8749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.389del	ENSP00000341619.3:p.Leu130ProfsTer?
ENST00000379328.9:c.389del MANE Select	ENSP00000368632.3:p.Leu130ProfsTer?
ENST00000481743.2:c.389del	ENSP00000493486.1:p.Leu130ProfsTer?
ENST00000346208.3:c.389del	ENSP00000341619.3:p.Leu130ProfsTer?
ENST00000379328.7:c.389del	ENSP00000368632.3:p.Leu130ProfsTer?
ENST00000461472.1:n.54del
NM_001002295.1:c.389del	NP_001002295.1:p.Leu130ProfsTer?
NM_002051.2:c.389del	NP_002042.1:p.Leu130ProfsTer?
XM_005252442.2:c.389del	XP_005252499.1:p.Leu130ProfsTer?
XM_005252443.3:c.389del	XP_005252500.1:p.Leu130ProfsTer?
XM_005252443.5:c.389del	XP_005252500.1:p.Leu130ProfsTer?
NM_001002295.2:c.389del MANE Select	NP_001002295.1:p.Leu130ProfsTer?
NM_002051.3:c.389del	NP_002042.1:p.Leu130ProfsTer?