Canonical Allele Identifier: CA591844054

Gene: GATA3

Linked Data

• dbSNP Id: rs1224196130
• gnomAD v2: 10-8100437-G-GTCC
• gnomAD v3: 10-8058474-G-GTCC
• gnomAD v4: 10-8058474-G-GTCC
• MyVariant Identifiers: chr10:g.8100437_8100438insTCC (hg19) ; chr10:g.8058474_8058475insTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058482_8058484dup , CM000672.2:g.8058482_8058484dup	GRCh38
NC_000010.10:g.8100445_8100447dup , CM000672.1:g.8100445_8100447dup	GRCh37
NC_000010.9:g.8140451_8140453dup	NCBI36
NG_015859.1:g.8779_8781dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.419_421dup	ENSP00000341619.3:p.Ser140_Leu141insSer
ENST00000379328.9:c.419_421dup MANE Select	ENSP00000368632.3:p.Ser140_Leu141insSer
ENST00000481743.2:c.419_421dup	ENSP00000493486.1:p.Ser140_Leu141insSer
ENST00000346208.3:c.419_421dup	ENSP00000341619.3:p.Ser140_Leu141insSer
ENST00000379328.7:c.419_421dup	ENSP00000368632.3:p.Ser140_Leu141insSer
ENST00000461472.1:n.84_86dup
NM_001002295.1:c.419_421dup	NP_001002295.1:p.Ser140_Leu141insSer
NM_002051.2:c.419_421dup	NP_002042.1:p.Ser140_Leu141insSer
XM_005252442.2:c.419_421dup	XP_005252499.1:p.Ser140_Leu141insSer
XM_005252443.3:c.419_421dup	XP_005252500.1:p.Ser140_Leu141insSer
XM_005252443.5:c.419_421dup	XP_005252500.1:p.Ser140_Leu141insSer
NM_001002295.2:c.419_421dup MANE Select	NP_001002295.1:p.Ser140_Leu141insSer
NM_002051.3:c.419_421dup	NP_002042.1:p.Ser140_Leu141insSer