Canonical Allele Identifier: CA2573102939

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1805431
• ClinVar RCV Id: RCV002471849

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11750178_11750180del , CM000670.2:g.11750178_11750180del	GRCh38
NC_000008.10:g.11607687_11607689del , CM000670.1:g.11607687_11607689del	GRCh37
NC_000008.9:g.11645096_11645098del	NCBI36
NG_008177.2:g.78260_78262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.851_853del	ENSP00000482268.2:p.Arg284_Asn285delinsHi...
ENST00000532059.6:c.854_856del MANE Select	ENSP00000435712.1:p.Arg285_Asn286delinsHi...
ENST00000335135.8:c.851_853del	ENSP00000334458.4:p.Arg284_Asn285delinsHi...
ENST00000526716.5:c.233_235del	ENSP00000435347.1:p.Arg78_Asn79delinsHis
ENST00000528712.5:c.233_235del	ENSP00000435043.1:p.Arg78_Asn79delinsHis
ENST00000532059.5:c.854_856del	ENSP00000435712.1:p.Arg285_Asn286delinsHi...
ENST00000622443.2:c.848_850del	ENSP00000482268.1:p.Arg283_Asn284delinsHi...
NM_001308093.1:c.854_856del	NP_001295022.1:p.Arg285_Asn286delinsHis
NM_001308094.1:c.233_235del	NP_001295023.1:p.Arg78_Asn79delinsHis
NM_002052.3:c.851_853del	NP_002043.2:p.Arg284_Asn285delinsHis
NM_002052.4:c.851_853del	NP_002043.2:p.Arg284_Asn285delinsHis
XM_005272385.3:c.854_856del	XP_005272442.1:p.Arg285_Asn286delinsHis
XM_005272386.1:c.854_856del	XP_005272443.1:p.Arg285_Asn286delinsHis
XM_006716248.1:c.854_856del	XP_006716311.1:p.Arg285_Asn286delinsHis
XM_011543817.1:c.854_856del	XP_011542119.1:p.Arg285_Asn286delinsHis
XM_011543818.1:c.854_856del	XP_011542120.1:p.Arg285_Asn286delinsHis
XM_005272385.4:c.854_856del	XP_005272442.1:p.Arg285_Asn286delinsHis
XM_011543817.3:c.854_856del	XP_011542119.1:p.Arg285_Asn286delinsHis
XM_011543818.2:c.854_856del	XP_011542120.1:p.Arg285_Asn286delinsHis
XM_017013312.2:c.854_856del	XP_016868801.1:p.Arg285_Asn286delinsHis
NM_001308093.3:c.854_856del MANE Select	NP_001295022.1:p.Arg285_Asn286delinsHis
NM_001308094.2:c.233_235del	NP_001295023.1:p.Arg78_Asn79delinsHis
NM_001374273.1:c.233_235del	NP_001361202.1:p.Arg78_Asn79delinsHis
NM_001374274.1:c.165+1093_165+1095del	NP_001361203.1:n.165+1093_165+1095del
NM_002052.5:c.851_853del	NP_002043.2:p.Arg284_Asn285delinsHis