Canonical Allele Identifier: CA5404427
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 977148
ClinVar RCV Id: RCV001254692 RCV002570570
dbSNP Id: rs771019738
ExAC: 10:8100727 T / TC
gnomAD v2: 10-8100727-T-TC
gnomAD v4: 10-8058764-T-TC
COSMIC: COSM4614275
MyVariant Identifiers: chr10:g.8100728_8100729insC (hg19) chr10:g.8100727_8100728insC (hg19) chr10:g.8058764_8058765insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058771dup , CM000672.2:g.8058771dup GRCh38
NC_000010.10:g.8100734dup , CM000672.1:g.8100734dup GRCh37
NC_000010.9:g.8140740dup NCBI36
NG_015859.1:g.9068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.708dup ENSP00000341619.3:p.Ser237GlnfsTer?
ENST00000379328.9:c.708dup MANE Select ENSP00000368632.3:p.Ser237GlnfsTer?
ENST00000346208.3:c.708dup ENSP00000341619.3:p.Ser237GlnfsTer?
ENST00000379328.7:c.708dup ENSP00000368632.3:p.Ser237GlnfsTer?
ENST00000461472.1:n.373dup
NM_001002295.1:c.708dup NP_001002295.1:p.Ser237GlnfsTer?
NM_002051.2:c.708dup NP_002042.1:p.Ser237GlnfsTer?
XM_005252442.2:c.708dup XP_005252499.1:p.Ser237GlnfsTer?
XM_005252443.3:c.708dup XP_005252500.1:p.Ser237GlnfsTer?
XM_005252443.5:c.708dup XP_005252500.1:p.Ser237GlnfsTer?
NM_001002295.2:c.708dup MANE Select NP_001002295.1:p.Ser237GlnfsTer?
NM_002051.3:c.708dup NP_002042.1:p.Ser237GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'