Canonical Allele Identifier: CA645553621

Gene: GATA3

Linked Data

• COSMIC: COSM5752269

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073811_8073812del , CM000672.2:g.8073811_8073812del	GRCh38
NC_000010.10:g.8115774_8115775del , CM000672.1:g.8115774_8115775del	GRCh37
NC_000010.9:g.8155780_8155781del	NCBI36
NG_015859.1:g.24108_24109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1120_1121del	ENSP00000341619.3:p.Lys374ValfsTer6
ENST00000379328.9:c.1123_1124del MANE Select	ENSP00000368632.3:p.Lys375ValfsTer6
ENST00000346208.3:c.1120_1121del	ENSP00000341619.3:p.Lys374ValfsTer6
ENST00000379328.7:c.1123_1124del	ENSP00000368632.3:p.Lys375ValfsTer6
ENST00000461472.1:n.642_643del
NM_001002295.1:c.1123_1124del	NP_001002295.1:p.Lys375ValfsTer6
NM_002051.2:c.1120_1121del	NP_002042.1:p.Lys374ValfsTer6
XM_005252442.2:c.1123_1124del	XP_005252499.1:p.Lys375ValfsTer6
XM_005252443.3:c.1123_1124del	XP_005252500.1:p.Lys375ValfsTer6
XM_005252443.5:c.1123_1124del	XP_005252500.1:p.Lys375ValfsTer6
NM_001002295.2:c.1123_1124del MANE Select	NP_001002295.1:p.Lys375ValfsTer6
NM_002051.3:c.1120_1121del	NP_002042.1:p.Lys374ValfsTer6