Canonical Allele Identifier: CA10581506
Community Standard Title: NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228ThrfsTer?)
Gene: GATA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058744_8058745insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC , CM000672.2:g.8058744_8058745insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC GRCh38
NC_000010.10:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC , CM000672.1:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC GRCh37
NC_000010.9:g.8140713_8140714insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC NCBI36
NG_015859.1:g.9041_9042insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC MANE Select NP_001002295.1:p.Glu228ThrfsTer?
ENST00000379328.9:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC MANE Select ENSP00000368632.3:p.Glu228ThrfsTer?
NM_001002295.1:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC NP_001002295.1:p.Glu228ThrfsTer?
NM_002051.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC NP_002042.1:p.Glu228ThrfsTer?
NM_002051.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC NP_002042.1:p.Glu228ThrfsTer?
ENST00000346208.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000346208.4:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC ENSP00000341619.3:p.Glu228ThrfsTer?
ENST00000379328.7:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC ENSP00000368632.3:p.Glu228ThrfsTer?
ENST00000461472.1:n.346_347insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC
XM_005252442.2:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC XP_005252499.1:p.Glu228ThrfsTer?
XM_005252443.3:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC XP_005252500.1:p.Glu228ThrfsTer?
XM_005252443.5:c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC XP_005252500.1:p.Glu228ThrfsTer?
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