Canonical Allele Identifier: CA5404347

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1194706
• ClinVar RCV Id: RCV001557544 ; RCV002501902 ; RCV003980696
• dbSNP Id: rs547425013
• ExAC: 10:8100397 A / ACGG
• gnomAD v2: 10-8100397-A-ACGG
• gnomAD v3: 10-8058434-A-ACGG
• gnomAD v4: 10-8058434-A-ACGG
• MyVariant Identifiers: chr10:g.8100397_8100398insCGG (hg19) ; chr10:g.8058434_8058435insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058436_8058438dup , CM000672.2:g.8058436_8058438dup	GRCh38
NC_000010.10:g.8100399_8100401dup , CM000672.1:g.8100399_8100401dup	GRCh37
NC_000010.9:g.8140405_8140407dup	NCBI36
NG_015859.1:g.8733_8735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.373_375dup	ENSP00000341619.3:p.Gly125_Ser126insGly
ENST00000379328.9:c.373_375dup MANE Select	ENSP00000368632.3:p.Gly125_Ser126insGly
ENST00000481743.2:c.373_375dup	ENSP00000493486.1:p.Gly125_Ser126insGly
ENST00000346208.3:c.373_375dup	ENSP00000341619.3:p.Gly125_Ser126insGly
ENST00000379328.7:c.373_375dup	ENSP00000368632.3:p.Gly125_Ser126insGly
ENST00000461472.1:n.38_40dup
NM_001002295.1:c.373_375dup	NP_001002295.1:p.Gly125_Ser126insGly
NM_002051.2:c.373_375dup	NP_002042.1:p.Gly125_Ser126insGly
XM_005252442.2:c.373_375dup	XP_005252499.1:p.Gly125_Ser126insGly
XM_005252443.3:c.373_375dup	XP_005252500.1:p.Gly125_Ser126insGly
XM_005252443.5:c.373_375dup	XP_005252500.1:p.Gly125_Ser126insGly
NM_001002295.2:c.373_375dup MANE Select	NP_001002295.1:p.Gly125_Ser126insGly
NM_002051.3:c.373_375dup	NP_002042.1:p.Gly125_Ser126insGly