Canonical Allele Identifier: CA2580081315

Gene: GATA3

Linked Data

• ClinVar Variation Id: 16621
• ClinVar RCV Id: RCV000018100

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058528_8058576del , CM000672.2:g.8058528_8058576del	GRCh38
NC_000010.10:g.8100491_8100539del , CM000672.1:g.8100491_8100539del	GRCh37
NC_000010.9:g.8140497_8140545del	NCBI36
NG_015859.1:g.8825_8873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.465_513del	ENSP00000341619.3:p.Thr156ArgfsTer23
ENST00000379328.9:c.465_513del MANE Select	ENSP00000368632.3:p.Thr156ArgfsTer23
ENST00000346208.3:c.465_513del	ENSP00000341619.3:p.Thr156ArgfsTer23
ENST00000379328.7:c.465_513del	ENSP00000368632.3:p.Thr156ArgfsTer23
ENST00000461472.1:n.130_178del
NM_001002295.1:c.465_513del	NP_001002295.1:p.Thr156ArgfsTer23
NM_002051.2:c.465_513del	NP_002042.1:p.Thr156ArgfsTer23
XM_005252442.2:c.465_513del	XP_005252499.1:p.Thr156ArgfsTer23
XM_005252443.3:c.465_513del	XP_005252500.1:p.Thr156ArgfsTer23
XM_005252443.5:c.465_513del	XP_005252500.1:p.Thr156ArgfsTer23
NM_001002295.2:c.465_513del MANE Select	NP_001002295.1:p.Thr156ArgfsTer23
NM_002051.3:c.465_513del	NP_002042.1:p.Thr156ArgfsTer23