Canonical Allele Identifier: CA2580081316
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2018759
ClinVar RCV Id: RCV002862225
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058671_8058672del , CM000672.2:g.8058671_8058672del GRCh38
NC_000010.10:g.8100634_8100635del , CM000672.1:g.8100634_8100635del GRCh37
NC_000010.9:g.8140640_8140641del NCBI36
NG_015859.1:g.8968_8969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.608_609del ENSP00000341619.3:p.Gly203GlufsTer?
ENST00000379328.9:c.608_609del MANE Select ENSP00000368632.3:p.Gly203GlufsTer?
ENST00000346208.3:c.608_609del ENSP00000341619.3:p.Gly203GlufsTer?
ENST00000379328.7:c.608_609del ENSP00000368632.3:p.Gly203GlufsTer?
ENST00000461472.1:n.273_274del
NM_001002295.1:c.608_609del NP_001002295.1:p.Gly203GlufsTer?
NM_002051.2:c.608_609del NP_002042.1:p.Gly203GlufsTer?
XM_005252442.2:c.608_609del XP_005252499.1:p.Gly203GlufsTer?
XM_005252443.3:c.608_609del XP_005252500.1:p.Gly203GlufsTer?
XM_005252443.5:c.608_609del XP_005252500.1:p.Gly203GlufsTer?
NM_001002295.2:c.608_609del MANE Select NP_001002295.1:p.Gly203GlufsTer?
NM_002051.3:c.608_609del NP_002042.1:p.Gly203GlufsTer?
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