Canonical Allele Identifier: CA2573145635

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1452435
• ClinVar RCV Id: RCV001999809 ; RCV002051993
• dbSNP Id: rs772396478
• gnomAD v4: 10-8058461-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058467del , CM000672.2:g.8058467del	GRCh38
NC_000010.10:g.8100430del , CM000672.1:g.8100430del	GRCh37
NC_000010.9:g.8140436del	NCBI36
NG_015859.1:g.8764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.404del	ENSP00000341619.3:p.Pro135ArgfsTer?
ENST00000379328.9:c.404del MANE Select	ENSP00000368632.3:p.Pro135ArgfsTer?
ENST00000481743.2:c.404del	ENSP00000493486.1:p.Pro135ArgfsTer?
ENST00000346208.3:c.404del	ENSP00000341619.3:p.Pro135ArgfsTer?
ENST00000379328.7:c.404del	ENSP00000368632.3:p.Pro135ArgfsTer?
ENST00000461472.1:n.69del
NM_001002295.1:c.404del	NP_001002295.1:p.Pro135ArgfsTer?
NM_002051.2:c.404del	NP_002042.1:p.Pro135ArgfsTer?
XM_005252442.2:c.404del	XP_005252499.1:p.Pro135ArgfsTer?
XM_005252443.3:c.404del	XP_005252500.1:p.Pro135ArgfsTer?
XM_005252443.5:c.404del	XP_005252500.1:p.Pro135ArgfsTer?
NM_001002295.2:c.404del MANE Select	NP_001002295.1:p.Pro135ArgfsTer?
NM_002051.3:c.404del	NP_002042.1:p.Pro135ArgfsTer?