Canonical Allele Identifier: CA2580078464

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2254682
• ClinVar RCV Id: RCV002758349

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933183_41933194dup , CM000670.2:g.41933183_41933194dup	GRCh38
NC_000008.10:g.41790701_41790712dup , CM000670.1:g.41790701_41790712dup	GRCh37
NC_000008.9:g.41909858_41909869dup	NCBI36
NG_042093.1:g.123835_123846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5028_5039dup MANE Select	ENSP00000265713.2:p.Gln1680_Gln1681insGlnGlnProGln
ENST00000396930.4:c.5028_5039dup	ENSP00000380136.3:p.Gln1680_Gln1681insGlnGlnProGln
ENST00000406337.6:c.5034_5045dup	ENSP00000385888.2:p.Gln1682_Gln1683insGlnGlnProGln
ENST00000649817.1:c.3709_3720dup
ENST00000265713.6:c.5028_5039dup	ENSP00000265713.2:p.Gln1680_Gln1681insGlnGlnProGln
ENST00000396930.3:c.5028_5039dup	ENSP00000380136.3:p.Gln1680_Gln1681insGlnGlnProGln
ENST00000406337.5:c.5028_5039dup	ENSP00000385888.1:p.Gln1680_Gln1681insGlnGlnProGln
NM_001099412.1:c.5028_5039dup	NP_001092882.1:p.Gln1680_Gln1681insGlnGlnProGln
NM_001099413.1:c.5028_5039dup	NP_001092883.1:p.Gln1680_Gln1681insGlnGlnProGln
NM_006766.3:c.5028_5039dup	NP_006757.2:p.Gln1680_Gln1681insGlnGlnProGln
NM_006766.4:c.5028_5039dup	NP_006757.2:p.Gln1680_Gln1681insGlnGlnProGln
XM_011544656.1:c.5160_5171dup	XP_011542958.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544657.1:c.5160_5171dup	XP_011542959.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544658.1:c.5160_5171dup	XP_011542960.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544659.1:c.5139_5150dup	XP_011542961.1:p.Gln1717_Gln1718insGlnGlnProGln
XM_011544660.1:c.5046_5057dup	XP_011542962.1:p.Gln1686_Gln1687insGlnGlnProGln
XM_011544656.2:c.5160_5171dup	XP_011542958.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544657.3:c.5160_5171dup	XP_011542959.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544658.3:c.5160_5171dup	XP_011542960.1:p.Gln1724_Gln1725insGlnGlnProGln
XM_011544659.2:c.5139_5150dup	XP_011542961.1:p.Gln1717_Gln1718insGlnGlnProGln
XM_017013863.1:c.5028_5039dup	XP_016869352.1:p.Gln1680_Gln1681insGlnGlnProGln
XM_017013864.2:c.5028_5039dup	XP_016869353.1:p.Gln1680_Gln1681insGlnGlnProGln
XM_024447285.1:c.3600_3611dup	XP_024303053.1:p.Gln1204_Gln1205insGlnGlnProGln
NM_006766.5:c.5028_5039dup MANE Select	NP_006757.2:p.Gln1680_Gln1681insGlnGlnProGln