Canonical Allele Identifier: CA2695211824
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073888_8073889del , CM000672.2:g.8073888_8073889del GRCh38
NC_000010.10:g.8115851_8115852del , CM000672.1:g.8115851_8115852del GRCh37
NC_000010.9:g.8155857_8155858del NCBI36
NG_015859.1:g.24185_24186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1197_1198del ENSP00000341619.3:p.Met400ValfsTer?
ENST00000379328.9:c.1200_1201del MANE Select ENSP00000368632.3:p.Met401ValfsTer?
ENST00000346208.3:c.1197_1198del ENSP00000341619.3:p.Met400ValfsTer?
ENST00000379328.7:c.1200_1201del ENSP00000368632.3:p.Met401ValfsTer?
ENST00000461472.1:n.719_720del
NM_001002295.1:c.1200_1201del NP_001002295.1:p.Met401ValfsTer?
NM_002051.2:c.1197_1198del NP_002042.1:p.Met400ValfsTer?
XM_005252442.2:c.1200_1201del XP_005252499.1:p.Met401ValfsTer?
XM_005252443.3:c.1200_1201del XP_005252500.1:p.Met401ValfsTer?
XM_005252443.5:c.1200_1201del XP_005252500.1:p.Met401ValfsTer?
NM_001002295.2:c.1200_1201del MANE Select NP_001002295.1:p.Met401ValfsTer?
NM_002051.3:c.1197_1198del NP_002042.1:p.Met400ValfsTer?