Canonical Allele Identifier: CA2580615428

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1185679
• ClinVar RCV Id: RCV001823288
• dbSNP Id: rs2131488650

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058415_8058416del , CM000672.2:g.8058415_8058416del	GRCh38
NC_000010.10:g.8100378_8100379del , CM000672.1:g.8100378_8100379del	GRCh37
NC_000010.9:g.8140384_8140385del	NCBI36
NG_015859.1:g.8712_8713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.352_353del	ENSP00000341619.3:p.Ser118GlnfsTer?
ENST00000379328.9:c.352_353del MANE Select	ENSP00000368632.3:p.Ser118GlnfsTer?
ENST00000481743.2:c.352_353del	ENSP00000493486.1:p.Ser118GlnfsTer?
ENST00000346208.3:c.352_353del	ENSP00000341619.3:p.Ser118GlnfsTer?
ENST00000379328.7:c.352_353del	ENSP00000368632.3:p.Ser118GlnfsTer?
ENST00000461472.1:n.17_18del
NM_001002295.1:c.352_353del	NP_001002295.1:p.Ser118GlnfsTer?
NM_002051.2:c.352_353del	NP_002042.1:p.Ser118GlnfsTer?
XM_005252442.2:c.352_353del	XP_005252499.1:p.Ser118GlnfsTer?
XM_005252443.3:c.352_353del	XP_005252500.1:p.Ser118GlnfsTer?
XM_005252443.5:c.352_353del	XP_005252500.1:p.Ser118GlnfsTer?
NM_001002295.2:c.352_353del MANE Select	NP_001002295.1:p.Ser118GlnfsTer?
NM_002051.3:c.352_353del	NP_002042.1:p.Ser118GlnfsTer?