Canonical Allele Identifier: CA645553617
Gene: GATA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073757_8073758dup , CM000672.2:g.8073757_8073758dup GRCh38
NC_000010.10:g.8115720_8115721dup , CM000672.1:g.8115720_8115721dup GRCh37
NC_000010.9:g.8155726_8155727dup NCBI36
NG_015859.1:g.24054_24055dup

Transcript Alleles

HGVS Amino-acid change
ENST00000346208.4:c.1066_1067dup ENSP00000341619.3:p.Met356IlefsTer2
ENST00000379328.9:c.1069_1070dup MANE Select ENSP00000368632.3:p.Met357IlefsTer2
ENST00000346208.3:c.1066_1067dup ENSP00000341619.3:p.Met356IlefsTer2
ENST00000379328.7:c.1069_1070dup ENSP00000368632.3:p.Met357IlefsTer2
ENST00000461472.1:n.588_589dup
NM_001002295.1:c.1069_1070dup NP_001002295.1:p.Met357IlefsTer2
NM_002051.2:c.1066_1067dup NP_002042.1:p.Met356IlefsTer2
XM_005252442.2:c.1069_1070dup XP_005252499.1:p.Met357IlefsTer2
XM_005252443.3:c.1069_1070dup XP_005252500.1:p.Met357IlefsTer2
XM_005252443.5:c.1069_1070dup XP_005252500.1:p.Met357IlefsTer2
NM_001002295.2:c.1069_1070dup MANE Select NP_001002295.1:p.Met357IlefsTer2
NM_002051.3:c.1066_1067dup NP_002042.1:p.Met356IlefsTer2