Canonical Allele Identifier: CA2968864591

Gene: GATA4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11750167_11750168del , CM000670.2:g.11750167_11750168del	GRCh38
NC_000008.10:g.11607676_11607677del , CM000670.1:g.11607676_11607677del	GRCh37
NC_000008.9:g.11645085_11645086del	NCBI36
NG_008177.2:g.78249_78250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.840_841del	ENSP00000482268.2:p.Leu281ValfsTer?
ENST00000532059.6:c.843_844del MANE Select	ENSP00000435712.1:p.Leu282ValfsTer?
ENST00000335135.8:c.840_841del	ENSP00000334458.4:p.Leu281ValfsTer?
ENST00000526716.5:c.222_223del	ENSP00000435347.1:p.Leu75ValfsTer?
ENST00000528712.5:c.222_223del	ENSP00000435043.1:p.Leu75ValfsTer?
ENST00000532059.5:c.843_844del	ENSP00000435712.1:p.Leu282ValfsTer?
ENST00000622443.2:c.837_838del	ENSP00000482268.1:p.Leu280ValfsTer?
NM_001308093.1:c.843_844del	NP_001295022.1:p.Leu282ValfsTer?
NM_001308094.1:c.222_223del	NP_001295023.1:p.Leu75ValfsTer?
NM_002052.3:c.840_841del	NP_002043.2:p.Leu281ValfsTer?
NM_002052.4:c.840_841del	NP_002043.2:p.Leu281ValfsTer?
XM_005272385.3:c.843_844del	XP_005272442.1:p.Leu282ValfsTer?
XM_005272386.1:c.843_844del	XP_005272443.1:p.Leu282ValfsTer?
XM_006716248.1:c.843_844del	XP_006716311.1:p.Leu282ValfsTer?
XM_011543817.1:c.843_844del	XP_011542119.1:p.Leu282ValfsTer?
XM_011543818.1:c.843_844del	XP_011542120.1:p.Leu282ValfsTer?
XM_005272385.4:c.843_844del	XP_005272442.1:p.Leu282ValfsTer?
XM_011543817.3:c.843_844del	XP_011542119.1:p.Leu282ValfsTer?
XM_011543818.2:c.843_844del	XP_011542120.1:p.Leu282ValfsTer?
XM_017013312.2:c.843_844del	XP_016868801.1:p.Leu282ValfsTer?
NM_001308093.3:c.843_844del MANE Select	NP_001295022.1:p.Leu282ValfsTer?
NM_001308094.2:c.222_223del	NP_001295023.1:p.Leu75ValfsTer?
NM_001374273.1:c.222_223del	NP_001361202.1:p.Leu75ValfsTer?
NM_001374274.1:c.165+1082_165+1083del	NP_001361203.1:n.165+1082_165+1083del
NM_002052.5:c.840_841del	NP_002043.2:p.Leu281ValfsTer?