Canonical Allele Identifier: CA2686163150
Gene: GATA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11708820_11708821del , CM000670.2:g.11708820_11708821del GRCh38
NC_000008.10:g.11566329_11566330del , CM000670.1:g.11566329_11566330del GRCh37
NC_000008.9:g.11603738_11603739del NCBI36
NG_008177.2:g.36902_36903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622443.3:c.508_509del ENSP00000482268.2:p.Gly170ArgfsTer?
ENST00000532059.6:c.508_509del MANE Select ENSP00000435712.1:p.Gly170ArgfsTer?
ENST00000335135.8:c.508_509del ENSP00000334458.4:p.Gly170ArgfsTer?
ENST00000526716.5:c.-6+4516_-6+4517del ENSP00000435347.1:n.-6+4516_-6+4517del
ENST00000528712.5:c.-6+8042_-6+8043del ENSP00000435043.1:n.-6+8042_-6+8043del
ENST00000532059.5:c.508_509del ENSP00000435712.1:p.Gly170ArgfsTer?
ENST00000622443.2:c.505_506del ENSP00000482268.1:p.Gly169ArgfsTer?
NM_001308093.1:c.508_509del NP_001295022.1:p.Gly170ArgfsTer?
NM_001308094.1:c.-6+8042_-6+8043del NP_001295023.1:n.-6+8042_-6+8043del
NM_002052.3:c.508_509del NP_002043.2:p.Gly170ArgfsTer?
NM_002052.4:c.508_509del NP_002043.2:p.Gly170ArgfsTer?
XM_005272385.3:c.508_509del XP_005272442.1:p.Gly170ArgfsTer?
XM_005272386.1:c.508_509del XP_005272443.1:p.Gly170ArgfsTer?
XM_006716248.1:c.508_509del XP_006716311.1:p.Gly170ArgfsTer?
XM_011543817.1:c.508_509del XP_011542119.1:p.Gly170ArgfsTer?
XM_011543818.1:c.508_509del XP_011542120.1:p.Gly170ArgfsTer?
XM_005272385.4:c.508_509del XP_005272442.1:p.Gly170ArgfsTer?
XM_011543817.3:c.508_509del XP_011542119.1:p.Gly170ArgfsTer?
XM_011543818.2:c.508_509del XP_011542120.1:p.Gly170ArgfsTer?
XM_017013312.2:c.508_509del XP_016868801.1:p.Gly170ArgfsTer?
NM_001308093.3:c.508_509del MANE Select NP_001295022.1:p.Gly170ArgfsTer?
NM_001308094.2:c.-6+8042_-6+8043del NP_001295023.1:n.-6+8042_-6+8043del
NM_001374273.1:c.-3+4516_-3+4517del NP_001361202.1:n.-3+4516_-3+4517del
NM_001374274.1:c.-3+806_-3+807del NP_001361203.1:n.-3+806_-3+807del
NM_002052.5:c.508_509del NP_002043.2:p.Gly170ArgfsTer?