Canonical Allele Identifier: CA891862707

Gene: GATA3

Linked Data

• ClinVar Variation Id: 591111
• ClinVar RCV Id: RCV000722287
• dbSNP Id: rs1564405153

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073743dup , CM000672.2:g.8073743dup	GRCh38
NC_000010.10:g.8115706dup , CM000672.1:g.8115706dup	GRCh37
NC_000010.9:g.8155712dup	NCBI36
NG_015859.1:g.24040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1052dup	ENSP00000341619.3:p.Asn351LysfsTer20
ENST00000379328.9:c.1055dup MANE Select	ENSP00000368632.3:p.Asn352LysfsTer20
ENST00000346208.3:c.1052dup	ENSP00000341619.3:p.Asn351LysfsTer20
ENST00000379328.7:c.1055dup	ENSP00000368632.3:p.Asn352LysfsTer20
ENST00000461472.1:n.574dup
NM_001002295.1:c.1055dup	NP_001002295.1:p.Asn352LysfsTer20
NM_002051.2:c.1052dup	NP_002042.1:p.Asn351LysfsTer20
XM_005252442.2:c.1055dup	XP_005252499.1:p.Asn352LysfsTer20
XM_005252443.3:c.1055dup	XP_005252500.1:p.Asn352LysfsTer20
XM_005252443.5:c.1055dup	XP_005252500.1:p.Asn352LysfsTer20
NM_001002295.2:c.1055dup MANE Select	NP_001002295.1:p.Asn352LysfsTer20
NM_002051.3:c.1052dup	NP_002042.1:p.Asn351LysfsTer20