Canonical Allele Identifier: CA591844148

Gene: GATA3

Linked Data

• dbSNP Id: rs1195364530
• gnomAD v2: 10-8100700-A-ACGTGCC
• MyVariant Identifiers: chr10:g.8100700_8100701insCGTGCC (hg19) ; chr10:g.8058737_8058738insCGTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058740_8058745dup , CM000672.2:g.8058740_8058745dup	GRCh38
NC_000010.10:g.8100703_8100708dup , CM000672.1:g.8100703_8100708dup	GRCh37
NC_000010.9:g.8140709_8140714dup	NCBI36
NG_015859.1:g.9037_9042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.677_682dup	ENSP00000341619.3:p.Pro227_Glu228insValPro
ENST00000379328.9:c.677_682dup MANE Select	ENSP00000368632.3:p.Pro227_Glu228insValPro
ENST00000346208.3:c.677_682dup	ENSP00000341619.3:p.Pro227_Glu228insValPro
ENST00000379328.7:c.677_682dup	ENSP00000368632.3:p.Pro227_Glu228insValPro
ENST00000461472.1:n.342_347dup
NM_001002295.1:c.677_682dup	NP_001002295.1:p.Pro227_Glu228insValPro
NM_002051.2:c.677_682dup	NP_002042.1:p.Pro227_Glu228insValPro
XM_005252442.2:c.677_682dup	XP_005252499.1:p.Pro227_Glu228insValPro
XM_005252443.3:c.677_682dup	XP_005252500.1:p.Pro227_Glu228insValPro
XM_005252443.5:c.677_682dup	XP_005252500.1:p.Pro227_Glu228insValPro
NM_001002295.2:c.677_682dup MANE Select	NP_001002295.1:p.Pro227_Glu228insValPro
NM_002051.3:c.677_682dup	NP_002042.1:p.Pro227_Glu228insValPro