Canonical Allele Identifier: CA460783569

Gene: KAT6A

Linked Data

• dbSNP Id: rs1554679541
• MyVariant Identifiers: chr8:g.41790674del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933156del , CM000670.2:g.41933156del	GRCh38
NC_000008.10:g.41790674del , CM000670.1:g.41790674del	GRCh37
NC_000008.9:g.41909831del	NCBI36
NG_042093.1:g.123871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5064del MANE Select	ENSP00000265713.2:p.Gln1688HisfsTer20
ENST00000396930.4:c.5064del	ENSP00000380136.3:p.Gln1688HisfsTer20
ENST00000406337.6:c.5070del	ENSP00000385888.2:p.Gln1690HisfsTer20
ENST00000649817.1:c.3745del
ENST00000265713.6:c.5064del	ENSP00000265713.2:p.Gln1688HisfsTer20
ENST00000396930.3:c.5064del	ENSP00000380136.3:p.Gln1688HisfsTer20
ENST00000406337.5:c.5064del	ENSP00000385888.1:p.Gln1688HisfsTer20
NM_001099412.1:c.5064del	NP_001092882.1:p.Gln1688HisfsTer20
NM_001099413.1:c.5064del	NP_001092883.1:p.Gln1688HisfsTer20
NM_006766.3:c.5064del	NP_006757.2:p.Gln1688HisfsTer20
NM_006766.4:c.5064del	NP_006757.2:p.Gln1688HisfsTer20
XM_011544656.1:c.5196del	XP_011542958.1:p.Gln1732HisfsTer20
XM_011544657.1:c.5196del	XP_011542959.1:p.Gln1732HisfsTer20
XM_011544658.1:c.5196del	XP_011542960.1:p.Gln1732HisfsTer20
XM_011544659.1:c.5175del	XP_011542961.1:p.Gln1725HisfsTer20
XM_011544660.1:c.5082del	XP_011542962.1:p.Gln1694HisfsTer20
XM_011544656.2:c.5196del	XP_011542958.1:p.Gln1732HisfsTer20
XM_011544657.3:c.5196del	XP_011542959.1:p.Gln1732HisfsTer20
XM_011544658.3:c.5196del	XP_011542960.1:p.Gln1732HisfsTer20
XM_011544659.2:c.5175del	XP_011542961.1:p.Gln1725HisfsTer20
XM_017013863.1:c.5064del	XP_016869352.1:p.Gln1688HisfsTer20
XM_017013864.2:c.5064del	XP_016869353.1:p.Gln1688HisfsTer20
XM_024447285.1:c.3636del	XP_024303053.1:p.Gln1212HisfsTer20
NM_006766.5:c.5064del MANE Select	NP_006757.2:p.Gln1688HisfsTer20