Canonical Allele Identifier: CA1139532356

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1678599
• ClinVar RCV Id: RCV002225200
• dbSNP Id: rs2150855509

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933214_41933225dup , CM000670.2:g.41933214_41933225dup	GRCh38
NC_000008.10:g.41790732_41790743dup , CM000670.1:g.41790732_41790743dup	GRCh37
NC_000008.9:g.41909889_41909900dup	NCBI36
NG_042093.1:g.123808_123819dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5001_5012dup MANE Select	ENSP00000265713.2:p.Gln1671_Pro1672insProAlaProGln
ENST00000396930.4:c.5001_5012dup	ENSP00000380136.3:p.Gln1671_Pro1672insProAlaProGln
ENST00000406337.6:c.5007_5018dup	ENSP00000385888.2:p.Gln1673_Pro1674insProAlaProGln
ENST00000648335.1:c.5001_5012dup	ENSP00000497086.1:p.Gln1671_Pro1672insProAlaProGln
ENST00000649817.1:c.3682_3693dup
ENST00000265713.6:c.5001_5012dup	ENSP00000265713.2:p.Gln1671_Pro1672insProAlaProGln
ENST00000396930.3:c.5001_5012dup	ENSP00000380136.3:p.Gln1671_Pro1672insProAlaProGln
ENST00000406337.5:c.5001_5012dup	ENSP00000385888.1:p.Gln1671_Pro1672insProAlaProGln
NM_001099412.1:c.5001_5012dup	NP_001092882.1:p.Gln1671_Pro1672insProAlaProGln
NM_001099413.1:c.5001_5012dup	NP_001092883.1:p.Gln1671_Pro1672insProAlaProGln
NM_006766.3:c.5001_5012dup	NP_006757.2:p.Gln1671_Pro1672insProAlaProGln
NM_006766.4:c.5001_5012dup	NP_006757.2:p.Gln1671_Pro1672insProAlaProGln
XM_011544656.1:c.5133_5144dup	XP_011542958.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544657.1:c.5133_5144dup	XP_011542959.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544658.1:c.5133_5144dup	XP_011542960.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544659.1:c.5112_5123dup	XP_011542961.1:p.Gln1708_Pro1709insProAlaProGln
XM_011544660.1:c.5019_5030dup	XP_011542962.1:p.Gln1677_Pro1678insProAlaProGln
XM_011544656.2:c.5133_5144dup	XP_011542958.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544657.3:c.5133_5144dup	XP_011542959.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544658.3:c.5133_5144dup	XP_011542960.1:p.Gln1715_Pro1716insProAlaProGln
XM_011544659.2:c.5112_5123dup	XP_011542961.1:p.Gln1708_Pro1709insProAlaProGln
XM_017013863.1:c.5001_5012dup	XP_016869352.1:p.Gln1671_Pro1672insProAlaProGln
XM_017013864.2:c.5001_5012dup	XP_016869353.1:p.Gln1671_Pro1672insProAlaProGln
XM_024447285.1:c.3573_3584dup	XP_024303053.1:p.Gln1195_Pro1196insProAlaProGln
NM_006766.5:c.5001_5012dup MANE Select	NP_006757.2:p.Gln1671_Pro1672insProAlaProGln