Canonical Allele Identifier: CA2740095013

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2985865
• ClinVar RCV Id: RCV003841472

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933231_41933254dup , CM000670.2:g.41933231_41933254dup	GRCh38
NC_000008.10:g.41790749_41790772dup , CM000670.1:g.41790749_41790772dup	GRCh37
NC_000008.9:g.41909906_41909929dup	NCBI36
NG_042093.1:g.123778_123801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4971_4994dup MANE Select	ENSP00000265713.2:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
ENST00000396930.4:c.4971_4994dup	ENSP00000380136.3:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
ENST00000406337.6:c.4977_5000dup	ENSP00000385888.2:p.Gln1667_Pro1668insGlnProGlnProProProProGl...
ENST00000648335.1:c.4971_4994dup	ENSP00000497086.1:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
ENST00000649817.1:c.3652_3675dup
ENST00000265713.6:c.4971_4994dup	ENSP00000265713.2:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
ENST00000396930.3:c.4971_4994dup	ENSP00000380136.3:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
ENST00000406337.5:c.4971_4994dup	ENSP00000385888.1:p.Gln1665_Pro1666insGlnProGlnProProProProGl...
NM_001099412.1:c.4971_4994dup	NP_001092882.1:p.Gln1665_Pro1666insGlnProGlnProProProProGln
NM_001099413.1:c.4971_4994dup	NP_001092883.1:p.Gln1665_Pro1666insGlnProGlnProProProProGln
NM_006766.3:c.4971_4994dup	NP_006757.2:p.Gln1665_Pro1666insGlnProGlnProProProProGln
NM_006766.4:c.4971_4994dup	NP_006757.2:p.Gln1665_Pro1666insGlnProGlnProProProProGln
XM_011544656.1:c.5103_5126dup	XP_011542958.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544657.1:c.5103_5126dup	XP_011542959.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544658.1:c.5103_5126dup	XP_011542960.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544659.1:c.5082_5105dup	XP_011542961.1:p.Gln1702_Pro1703insGlnProGlnProProProProGln
XM_011544660.1:c.4989_5012dup	XP_011542962.1:p.Gln1671_Pro1672insGlnProGlnProProProProGln
XM_011544656.2:c.5103_5126dup	XP_011542958.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544657.3:c.5103_5126dup	XP_011542959.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544658.3:c.5103_5126dup	XP_011542960.1:p.Gln1709_Pro1710insGlnProGlnProProProProGln
XM_011544659.2:c.5082_5105dup	XP_011542961.1:p.Gln1702_Pro1703insGlnProGlnProProProProGln
XM_017013863.1:c.4971_4994dup	XP_016869352.1:p.Gln1665_Pro1666insGlnProGlnProProProProGln
XM_017013864.2:c.4971_4994dup	XP_016869353.1:p.Gln1665_Pro1666insGlnProGlnProProProProGln
XM_024447285.1:c.3543_3566dup	XP_024303053.1:p.Gln1189_Pro1190insGlnProGlnProProProProGln
NM_006766.5:c.4971_4994dup MANE Select	NP_006757.2:p.Gln1665_Pro1666insGlnProGlnProProProProGln