Canonical Allele Identifier: CA645294058
Community Standard Title: NM_001002295.2(GATA3):c.1201_1202del (p.Met401ValfsTer?)
Gene: GATA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073889_8073890del , CM000672.2:g.8073889_8073890del GRCh38
NC_000010.10:g.8115852_8115853del , CM000672.1:g.8115852_8115853del GRCh37
NC_000010.9:g.8155858_8155859del NCBI36
NG_015859.1:g.24186_24187del

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.1201_1202del MANE Select NP_001002295.1:p.Met401ValfsTer?
ENST00000379328.9:c.1201_1202del MANE Select ENSP00000368632.3:p.Met401ValfsTer?
NM_001002295.1:c.1201_1202del NP_001002295.1:p.Met401ValfsTer?
NM_002051.2:c.1198_1199del NP_002042.1:p.Met400ValfsTer?
NM_002051.3:c.1198_1199del NP_002042.1:p.Met400ValfsTer?
ENST00000346208.3:c.1198_1199del ENSP00000341619.3:p.Met400ValfsTer?
ENST00000346208.4:c.1198_1199del ENSP00000341619.3:p.Met400ValfsTer?
ENST00000379328.7:c.1201_1202del ENSP00000368632.3:p.Met401ValfsTer?
ENST00000461472.1:n.720_721del
XM_005252442.2:c.1201_1202del XP_005252499.1:p.Met401ValfsTer?
XM_005252443.3:c.1201_1202del XP_005252500.1:p.Met401ValfsTer?
XM_005252443.5:c.1201_1202del XP_005252500.1:p.Met401ValfsTer?
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