Canonical Allele Identifier: CA2695211806
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058443_8058444del , CM000672.2:g.8058443_8058444del GRCh38
NC_000010.10:g.8100406_8100407del , CM000672.1:g.8100406_8100407del GRCh37
NC_000010.9:g.8140412_8140413del NCBI36
NG_015859.1:g.8740_8741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.380_381del ENSP00000341619.3:p.Pro127ArgfsTer?
ENST00000379328.9:c.380_381del MANE Select ENSP00000368632.3:p.Pro127ArgfsTer?
ENST00000481743.2:c.380_381del ENSP00000493486.1:p.Pro127ArgfsTer?
ENST00000346208.3:c.380_381del ENSP00000341619.3:p.Pro127ArgfsTer?
ENST00000379328.7:c.380_381del ENSP00000368632.3:p.Pro127ArgfsTer?
ENST00000461472.1:n.45_46del
NM_001002295.1:c.380_381del NP_001002295.1:p.Pro127ArgfsTer?
NM_002051.2:c.380_381del NP_002042.1:p.Pro127ArgfsTer?
XM_005252442.2:c.380_381del XP_005252499.1:p.Pro127ArgfsTer?
XM_005252443.3:c.380_381del XP_005252500.1:p.Pro127ArgfsTer?
XM_005252443.5:c.380_381del XP_005252500.1:p.Pro127ArgfsTer?
NM_001002295.2:c.380_381del MANE Select NP_001002295.1:p.Pro127ArgfsTer?
NM_002051.3:c.380_381del NP_002042.1:p.Pro127ArgfsTer?