Canonical Allele Identifier: CA2582342673

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2582548
• ClinVar RCV Id: RCV003333552

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058702_8058711del , CM000672.2:g.8058702_8058711del	GRCh38
NC_000010.10:g.8100665_8100674del , CM000672.1:g.8100665_8100674del	GRCh37
NC_000010.9:g.8140671_8140680del	NCBI36
NG_015859.1:g.8999_9008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.639_648del	ENSP00000341619.3:p.Ser214ThrfsTer?
ENST00000379328.9:c.639_648del MANE Select	ENSP00000368632.3:p.Ser214ThrfsTer?
ENST00000346208.3:c.639_648del	ENSP00000341619.3:p.Ser214ThrfsTer?
ENST00000379328.7:c.639_648del	ENSP00000368632.3:p.Ser214ThrfsTer?
ENST00000461472.1:n.304_313del
NM_001002295.1:c.639_648del	NP_001002295.1:p.Ser214ThrfsTer?
NM_002051.2:c.639_648del	NP_002042.1:p.Ser214ThrfsTer?
XM_005252442.2:c.639_648del	XP_005252499.1:p.Ser214ThrfsTer?
XM_005252443.3:c.639_648del	XP_005252500.1:p.Ser214ThrfsTer?
XM_005252443.5:c.639_648del	XP_005252500.1:p.Ser214ThrfsTer?
NM_001002295.2:c.639_648del MANE Select	NP_001002295.1:p.Ser214ThrfsTer?
NM_002051.3:c.639_648del	NP_002042.1:p.Ser214ThrfsTer?