Canonical Allele Identifier: CA5404353

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2136840
• ClinVar RCV Id: RCV003058242
• dbSNP Id: rs772396478
• ExAC: 10:8100424 A / AC
• gnomAD v4: 10-8058461-A-AC
• MyVariant Identifiers: chr10:g.8100424_8100425insC (hg19) ; chr10:g.8058461_8058462insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058467dup , CM000672.2:g.8058467dup	GRCh38
NC_000010.10:g.8100430dup , CM000672.1:g.8100430dup	GRCh37
NC_000010.9:g.8140436dup	NCBI36
NG_015859.1:g.8764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.404dup	ENSP00000341619.3:p.Ala136GlyfsTer?
ENST00000379328.9:c.404dup MANE Select	ENSP00000368632.3:p.Ala136GlyfsTer?
ENST00000481743.2:c.404dup	ENSP00000493486.1:p.Ala136GlyfsTer?
ENST00000346208.3:c.404dup	ENSP00000341619.3:p.Ala136GlyfsTer?
ENST00000379328.7:c.404dup	ENSP00000368632.3:p.Ala136GlyfsTer?
ENST00000461472.1:n.69dup
NM_001002295.1:c.404dup	NP_001002295.1:p.Ala136GlyfsTer?
NM_002051.2:c.404dup	NP_002042.1:p.Ala136GlyfsTer?
XM_005252442.2:c.404dup	XP_005252499.1:p.Ala136GlyfsTer?
XM_005252443.3:c.404dup	XP_005252500.1:p.Ala136GlyfsTer?
XM_005252443.5:c.404dup	XP_005252500.1:p.Ala136GlyfsTer?
NM_001002295.2:c.404dup MANE Select	NP_001002295.1:p.Ala136GlyfsTer?
NM_002051.3:c.404dup	NP_002042.1:p.Ala136GlyfsTer?