Canonical Allele Identifier: CA2695208951
Gene: GATA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11758382_11758391del , CM000670.2:g.11758382_11758391del GRCh38
NC_000008.10:g.11615891_11615900del , CM000670.1:g.11615891_11615900del GRCh37
NC_000008.9:g.11653300_11653309del NCBI36
NG_008177.2:g.86464_86473del

Transcript Alleles

HGVS Amino-acid change
ENST00000622443.3:c.1236_1245del ENSP00000482268.2:p.Pro413SerfsTer24
ENST00000532059.6:c.1239_1248del MANE Select ENSP00000435712.1:p.Pro414SerfsTer24
ENST00000335135.8:c.1236_1245del ENSP00000334458.4:p.Pro413SerfsTer24
ENST00000526021.1:n.681_690del
ENST00000528712.5:c.618_627del ENSP00000435043.1:p.Pro207SerfsTer24
ENST00000532059.5:c.1239_1248del ENSP00000435712.1:p.Pro414SerfsTer24
ENST00000622443.2:c.1233_1242del ENSP00000482268.1:p.Pro412SerfsTer24
NM_001308093.1:c.1239_1248del NP_001295022.1:p.Pro414SerfsTer24
NM_001308094.1:c.618_627del NP_001295023.1:p.Pro207SerfsTer24
NM_002052.3:c.1236_1245del NP_002043.2:p.Pro413SerfsTer24
NM_002052.4:c.1236_1245del NP_002043.2:p.Pro413SerfsTer24
XM_005272385.3:c.1239_1248del XP_005272442.1:p.Pro414SerfsTer24
XM_005272386.1:c.1239_1248del XP_005272443.1:p.Pro414SerfsTer24
XM_006716248.1:c.1239_1248del XP_006716311.1:p.Pro414SerfsTer24
XM_011543817.1:c.1239_1248del XP_011542119.1:p.Pro414SerfsTer24
XM_011543818.1:c.1239_1248del XP_011542120.1:p.Pro414SerfsTer24
XM_005272385.4:c.1239_1248del XP_005272442.1:p.Pro414SerfsTer24
XM_011543817.3:c.1239_1248del XP_011542119.1:p.Pro414SerfsTer24
XM_011543818.2:c.1239_1248del XP_011542120.1:p.Pro414SerfsTer24
XM_017013312.2:c.1239_1248del XP_016868801.1:p.Pro414SerfsTer24
NM_001308093.3:c.1239_1248del MANE Select NP_001295022.1:p.Pro414SerfsTer24
NM_001308094.2:c.618_627del NP_001295023.1:p.Pro207SerfsTer24
NM_001374273.1:c.618_627del NP_001361202.1:p.Pro207SerfsTer24
NM_001374274.1:c.492_501del NP_001361203.1:p.Pro165SerfsTer24
NM_002052.5:c.1236_1245del NP_002043.2:p.Pro413SerfsTer24