Canonical Allele Identifier: CA2695211809
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058586_8058591dup , CM000672.2:g.8058586_8058591dup GRCh38
NC_000010.10:g.8100549_8100554dup , CM000672.1:g.8100549_8100554dup GRCh37
NC_000010.9:g.8140555_8140560dup NCBI36
NG_015859.1:g.8883_8888dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.523_528dup ENSP00000341619.3:p.Ala176_Arg177insSerAla
ENST00000379328.9:c.523_528dup MANE Select ENSP00000368632.3:p.Ala176_Arg177insSerAla
ENST00000346208.3:c.523_528dup ENSP00000341619.3:p.Ala176_Arg177insSerAla
ENST00000379328.7:c.523_528dup ENSP00000368632.3:p.Ala176_Arg177insSerAla
ENST00000461472.1:n.188_193dup
NM_001002295.1:c.523_528dup NP_001002295.1:p.Ala176_Arg177insSerAla
NM_002051.2:c.523_528dup NP_002042.1:p.Ala176_Arg177insSerAla
XM_005252442.2:c.523_528dup XP_005252499.1:p.Ala176_Arg177insSerAla
XM_005252443.3:c.523_528dup XP_005252500.1:p.Ala176_Arg177insSerAla
XM_005252443.5:c.523_528dup XP_005252500.1:p.Ala176_Arg177insSerAla
NM_001002295.2:c.523_528dup MANE Select NP_001002295.1:p.Ala176_Arg177insSerAla
NM_002051.3:c.523_528dup NP_002042.1:p.Ala176_Arg177insSerAla