Canonical Allele Identifier: CA658797400

Gene: GATA3

Linked Data

• ClinVar Variation Id: 521009
• ClinVar RCV Id: RCV000623135
• dbSNP Id: rs1554794844
• MyVariant Identifiers: chr10:g.8100613del (hg19) ; chr10:g.8058650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058650del , CM000672.2:g.8058650del	GRCh38
NC_000010.10:g.8100613del , CM000672.1:g.8100613del	GRCh37
NC_000010.9:g.8140619del	NCBI36
NG_015859.1:g.8947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.587del	ENSP00000341619.3:p.Leu196ArgfsTer10
ENST00000379328.9:c.587del MANE Select	ENSP00000368632.3:p.Leu196ArgfsTer10
ENST00000346208.3:c.587del	ENSP00000341619.3:p.Leu196ArgfsTer10
ENST00000379328.7:c.587del	ENSP00000368632.3:p.Leu196ArgfsTer10
ENST00000461472.1:n.252del
NM_001002295.1:c.587del	NP_001002295.1:p.Leu196ArgfsTer10
NM_002051.2:c.587del	NP_002042.1:p.Leu196ArgfsTer10
XM_005252442.2:c.587del	XP_005252499.1:p.Leu196ArgfsTer10
XM_005252443.3:c.587del	XP_005252500.1:p.Leu196ArgfsTer10
XM_005252443.5:c.587del	XP_005252500.1:p.Leu196ArgfsTer10
NM_001002295.2:c.587del MANE Select	NP_001002295.1:p.Leu196ArgfsTer10
NM_002051.3:c.587del	NP_002042.1:p.Leu196ArgfsTer10