Canonical Allele Identifier: CA2573145634

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1685840
• ClinVar RCV Id: RCV002250007
• dbSNP Id: rs2131488863

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058444_8058451del , CM000672.2:g.8058444_8058451del	GRCh38
NC_000010.10:g.8100407_8100414del , CM000672.1:g.8100407_8100414del	GRCh37
NC_000010.9:g.8140413_8140420del	NCBI36
NG_015859.1:g.8741_8748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.381_388del	ENSP00000341619.3:p.Gly128LeufsTer?
ENST00000379328.9:c.381_388del MANE Select	ENSP00000368632.3:p.Gly128LeufsTer?
ENST00000481743.2:c.381_388del	ENSP00000493486.1:p.Gly128LeufsTer?
ENST00000346208.3:c.381_388del	ENSP00000341619.3:p.Gly128LeufsTer?
ENST00000379328.7:c.381_388del	ENSP00000368632.3:p.Gly128LeufsTer?
ENST00000461472.1:n.46_53del
NM_001002295.1:c.381_388del	NP_001002295.1:p.Gly128LeufsTer?
NM_002051.2:c.381_388del	NP_002042.1:p.Gly128LeufsTer?
XM_005252442.2:c.381_388del	XP_005252499.1:p.Gly128LeufsTer?
XM_005252443.3:c.381_388del	XP_005252500.1:p.Gly128LeufsTer?
XM_005252443.5:c.381_388del	XP_005252500.1:p.Gly128LeufsTer?
NM_001002295.2:c.381_388del MANE Select	NP_001002295.1:p.Gly128LeufsTer?
NM_002051.3:c.381_388del	NP_002042.1:p.Gly128LeufsTer?