Canonical Allele Identifier: CA5404307

Gene: GATA3

Linked Data

• dbSNP Id: rs745825837
• ExAC: 10:8097900 C / CAG
• gnomAD v2: 10-8097900-C-CAG
• gnomAD v4: 10-8055937-C-CAG
• MyVariant Identifiers: chr10:g.8097900_8097901insAG (hg19) ; chr10:g.8055937_8055938insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8055938_8055939dup , CM000672.2:g.8055938_8055939dup	GRCh38
NC_000010.10:g.8097901_8097902dup , CM000672.1:g.8097901_8097902dup	GRCh37
NC_000010.9:g.8137907_8137908dup	NCBI36
NG_015859.1:g.6235_6236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.241+42_241+43dup	ENSP00000341619.3:n.241+42_241+43dup
ENST00000379328.9:c.241+42_241+43dup MANE Select	ENSP00000368632.3:n.241+42_241+43dup
ENST00000481743.2:c.241+42_241+43dup	ENSP00000493486.1:n.241+42_241+43dup
ENST00000346208.3:c.241+42_241+43dup	ENSP00000341619.3:n.241+42_241+43dup
ENST00000379328.7:c.241+42_241+43dup	ENSP00000368632.3:n.241+42_241+43dup
NM_001002295.1:c.241+42_241+43dup	NP_001002295.1:n.241+42_241+43dup
NM_002051.2:c.241+42_241+43dup	NP_002042.1:n.241+42_241+43dup
XM_005252442.2:c.241+42_241+43dup	XP_005252499.1:n.241+42_241+43dup
XM_005252443.3:c.241+42_241+43dup	XP_005252500.1:n.241+42_241+43dup
XM_005252443.5:c.241+42_241+43dup	XP_005252500.1:n.241+42_241+43dup
XR_001747358.1:n.617+827_617+828dup
NM_001002295.2:c.241+42_241+43dup MANE Select	NP_001002295.1:n.241+42_241+43dup
NM_002051.3:c.241+42_241+43dup	NP_002042.1:n.241+42_241+43dup