Canonical Allele Identifier: CA591844055

Gene: GATA3

Linked Data

• dbSNP Id: rs1355497533
• gnomAD v2: 10-8100536-A-AGGCTCGGCC
• gnomAD v3: 10-8058573-A-AGGCTCGGCC
• gnomAD v4: 10-8058573-A-AGGCTCGGCC
• MyVariant Identifiers: chr10:g.8100536_8100537insGGCTCGGCC (hg19) ; chr10:g.8058573_8058574insGGCTCGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058583_8058591dup , CM000672.2:g.8058583_8058591dup	GRCh38
NC_000010.10:g.8100546_8100554dup , CM000672.1:g.8100546_8100554dup	GRCh37
NC_000010.9:g.8140552_8140560dup	NCBI36
NG_015859.1:g.8880_8888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.520_528dup	ENSP00000341619.3:p.Ala176_Arg177insGlySerAla
ENST00000379328.9:c.520_528dup MANE Select	ENSP00000368632.3:p.Ala176_Arg177insGlySerAla
ENST00000346208.3:c.520_528dup	ENSP00000341619.3:p.Ala176_Arg177insGlySerAla
ENST00000379328.7:c.520_528dup	ENSP00000368632.3:p.Ala176_Arg177insGlySerAla
ENST00000461472.1:n.185_193dup
NM_001002295.1:c.520_528dup	NP_001002295.1:p.Ala176_Arg177insGlySerAla
NM_002051.2:c.520_528dup	NP_002042.1:p.Ala176_Arg177insGlySerAla
XM_005252442.2:c.520_528dup	XP_005252499.1:p.Ala176_Arg177insGlySerAla
XM_005252443.3:c.520_528dup	XP_005252500.1:p.Ala176_Arg177insGlySerAla
XM_005252443.5:c.520_528dup	XP_005252500.1:p.Ala176_Arg177insGlySerAla
NM_001002295.2:c.520_528dup MANE Select	NP_001002295.1:p.Ala176_Arg177insGlySerAla
NM_002051.3:c.520_528dup	NP_002042.1:p.Ala176_Arg177insGlySerAla