Canonical Allele Identifier: CA186117

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 180678
• ClinVar RCV Id: RCV000162316 ; RCV000167548
• dbSNP Id: rs786200952
• MyVariant Identifiers: chr8:g.41791859dupT (hg19) ; chr8:g.41791858_41791859insT (hg19) ; chr8:g.41934341dupT (hg38) ; chr8:g.41934340_41934341insT (hg38)
• PubMed: PMID:25728777

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41934341dup , CM000670.2:g.41934341dup	GRCh38
NC_000008.10:g.41791859dup , CM000670.1:g.41791859dup	GRCh37
NC_000008.9:g.41911016dup	NCBI36
NG_042093.1:g.122686dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.3879dup MANE Select	ENSP00000265713.2:p.Glu1294ArgfsTer19
ENST00000396930.4:c.3879dup	ENSP00000380136.3:p.Glu1294ArgfsTer19
ENST00000406337.6:c.3885dup	ENSP00000385888.2:p.Glu1296ArgfsTer19
ENST00000648335.1:c.3879dup	ENSP00000497086.1:p.Glu1294ArgfsTer19
ENST00000649817.1:c.2560dup
ENST00000265713.6:c.3879dup	ENSP00000265713.2:p.Glu1294ArgfsTer19
ENST00000396930.3:c.3879dup	ENSP00000380136.3:p.Glu1294ArgfsTer19
ENST00000406337.5:c.3879dup	ENSP00000385888.1:p.Glu1294ArgfsTer19
NM_001099412.1:c.3879dup	NP_001092882.1:p.Glu1294ArgfsTer19
NM_001099413.1:c.3879dup	NP_001092883.1:p.Glu1294ArgfsTer19
NM_006766.3:c.3879dup	NP_006757.2:p.Glu1294ArgfsTer19
NM_006766.4:c.3879dup	NP_006757.2:p.Glu1294ArgfsTer19
XM_011544656.1:c.4011dup	XP_011542958.1:p.Glu1338ArgfsTer19
XM_011544657.1:c.4011dup	XP_011542959.1:p.Glu1338ArgfsTer19
XM_011544658.1:c.4011dup	XP_011542960.1:p.Glu1338ArgfsTer19
XM_011544659.1:c.3990dup	XP_011542961.1:p.Glu1331ArgfsTer19
XM_011544660.1:c.3897dup	XP_011542962.1:p.Glu1300ArgfsTer19
XM_011544656.2:c.4011dup	XP_011542958.1:p.Glu1338ArgfsTer19
XM_011544657.3:c.4011dup	XP_011542959.1:p.Glu1338ArgfsTer19
XM_011544658.3:c.4011dup	XP_011542960.1:p.Glu1338ArgfsTer19
XM_011544659.2:c.3990dup	XP_011542961.1:p.Glu1331ArgfsTer19
XM_017013863.1:c.3879dup	XP_016869352.1:p.Glu1294ArgfsTer19
XM_017013864.2:c.3879dup	XP_016869353.1:p.Glu1294ArgfsTer19
XM_024447285.1:c.2451dup	XP_024303053.1:p.Glu818ArgfsTer19
NM_006766.5:c.3879dup MANE Select	NP_006757.2:p.Glu1294ArgfsTer19