Canonical Allele Identifier: CA2573142555

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1504221
• ClinVar RCV Id: RCV002026027
• dbSNP Id: rs2130069025

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708582_11708583delinsTA , CM000670.2:g.11708582_11708583delinsTA	GRCh38
NC_000008.10:g.11566091_11566092delinsTA , CM000670.1:g.11566091_11566092delinsTA	GRCh37
NC_000008.9:g.11603500_11603501delinsTA	NCBI36
NG_008177.2:g.36664_36665delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.270_271delinsTA	ENSP00000482268.2:p.Gln91Lys
ENST00000532059.6:c.270_271delinsTA MANE Select	ENSP00000435712.1:p.Gln91Lys
ENST00000335135.8:c.270_271delinsTA	ENSP00000334458.4:p.Gln91Lys
ENST00000526716.5:c.-6+4278_-6+4279delinsTA	ENSP00000435347.1:n.-6+4278_-6+4279delinsTA
ENST00000528027.1:c.270_271delinsTA	ENSP00000432278.1:p.Gln91Lys
ENST00000528712.5:c.-6+7804_-6+7805delinsTA	ENSP00000435043.1:n.-6+7804_-6+7805delinsTA
ENST00000532059.5:c.270_271delinsTA	ENSP00000435712.1:p.Gln91Lys
ENST00000622443.2:c.267_268delinsTA	ENSP00000482268.1:p.Gln90Lys
NM_001308093.1:c.270_271delinsTA	NP_001295022.1:p.Gln91Lys
NM_001308094.1:c.-6+7804_-6+7805delinsTA	NP_001295023.1:n.-6+7804_-6+7805delinsTA
NM_002052.3:c.270_271delinsTA	NP_002043.2:p.Gln91Lys
NM_002052.4:c.270_271delinsTA	NP_002043.2:p.Gln91Lys
XM_005272385.3:c.270_271delinsTA	XP_005272442.1:p.Gln91Lys
XM_005272386.1:c.270_271delinsTA	XP_005272443.1:p.Gln91Lys
XM_006716248.1:c.270_271delinsTA	XP_006716311.1:p.Gln91Lys
XM_011543817.1:c.270_271delinsTA	XP_011542119.1:p.Gln91Lys
XM_011543818.1:c.270_271delinsTA	XP_011542120.1:p.Gln91Lys
XM_005272385.4:c.270_271delinsTA	XP_005272442.1:p.Gln91Lys
XM_011543817.3:c.270_271delinsTA	XP_011542119.1:p.Gln91Lys
XM_011543818.2:c.270_271delinsTA	XP_011542120.1:p.Gln91Lys
XM_017013312.2:c.270_271delinsTA	XP_016868801.1:p.Gln91Lys
NM_001308093.3:c.270_271delinsTA MANE Select	NP_001295022.1:p.Gln91Lys
NM_001308094.2:c.-6+7804_-6+7805delinsTA	NP_001295023.1:n.-6+7804_-6+7805delinsTA
NM_001374273.1:c.-3+4278_-3+4279delinsTA	NP_001361202.1:n.-3+4278_-3+4279delinsTA
NM_001374274.1:c.-3+568_-3+569delinsTA	NP_001361203.1:n.-3+568_-3+569delinsTA
NM_002052.5:c.270_271delinsTA	NP_002043.2:p.Gln91Lys