Canonical Allele Identifier: CA202458114
Community Standard Title: NM_001002295.2(GATA3):c.1050+300_1050+301del
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8069898_8069899del , CM000672.2:g.8069898_8069899del GRCh38
NC_000010.10:g.8111861_8111862del , CM000672.1:g.8111861_8111862del GRCh37
NC_000010.9:g.8151867_8151868del NCBI36
NG_015859.1:g.20195_20196del

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.1050+300_1050+301del MANE Select NP_001002295.1:n.1050+300_1050+301del
ENST00000379328.9:c.1050+300_1050+301del MANE Select ENSP00000368632.3:n.1050+300_1050+301del
NM_001002295.1:c.1050+300_1050+301del NP_001002295.1:n.1050+300_1050+301del
NM_002051.2:c.1047+300_1047+301del NP_002042.1:n.1047+300_1047+301del
NM_002051.3:c.1047+300_1047+301del NP_002042.1:n.1047+300_1047+301del
ENST00000346208.3:c.1047+300_1047+301del ENSP00000341619.3:n.1047+300_1047+301del
ENST00000346208.4:c.1047+300_1047+301del ENSP00000341619.3:n.1047+300_1047+301del
ENST00000379328.7:c.1050+300_1050+301del ENSP00000368632.3:n.1050+300_1050+301del
ENST00000461472.1:n.569+300_569+301del
XM_005252442.2:c.1050+300_1050+301del XP_005252499.1:n.1050+300_1050+301del
XM_005252443.3:c.1050+300_1050+301del XP_005252500.1:n.1050+300_1050+301del
XM_005252443.5:c.1050+300_1050+301del XP_005252500.1:n.1050+300_1050+301del