Canonical Allele Identifier: CA1779195792

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933168_41933180delinsCTGCGGCTGCTGT , CM000670.2:g.41933168_41933180delinsCTGCGGCTGCTGT	GRCh38
NC_000008.10:g.41790686_41790698delinsCTGCGGCTGCTGT , CM000670.1:g.41790686_41790698delinsCTGCGGCTGCTGT	GRCh37
NC_000008.9:g.41909843_41909855delinsCTGCGGCTGCTGT	NCBI36
NG_042093.1:g.123847_123859delinsACAGCAGCCGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5040_5052delinsACAGCAGCCGCAG MANE Select	ENSP00000265713.2:p.Gln1680=
ENST00000396930.4:c.5040_5052delinsACAGCAGCCGCAG	ENSP00000380136.3:p.Gln1680=
ENST00000406337.6:c.5046_5058delinsACAGCAGCCGCAG	ENSP00000385888.2:p.Gln1682=
ENST00000649817.1:c.3721_3733delinsACAGCAGCCGCAG
ENST00000265713.6:c.5040_5052delinsACAGCAGCCGCAG	ENSP00000265713.2:p.Gln1680=
ENST00000396930.3:c.5040_5052delinsACAGCAGCCGCAG	ENSP00000380136.3:p.Gln1680=
ENST00000406337.5:c.5040_5052delinsACAGCAGCCGCAG	ENSP00000385888.1:p.Gln1680=
NM_001099412.1:c.5040_5052delinsACAGCAGCCGCAG	NP_001092882.1:p.Gln1680=
NM_001099413.1:c.5040_5052delinsACAGCAGCCGCAG	NP_001092883.1:p.Gln1680=
NM_006766.3:c.5040_5052delinsACAGCAGCCGCAG	NP_006757.2:p.Gln1680=
NM_006766.4:c.5040_5052delinsACAGCAGCCGCAG	NP_006757.2:p.Gln1680=
XM_011544656.1:c.5172_5184delinsACAGCAGCCGCAG	XP_011542958.1:p.Gln1724=
XM_011544657.1:c.5172_5184delinsACAGCAGCCGCAG	XP_011542959.1:p.Gln1724=
XM_011544658.1:c.5172_5184delinsACAGCAGCCGCAG	XP_011542960.1:p.Gln1724=
XM_011544659.1:c.5151_5163delinsACAGCAGCCGCAG	XP_011542961.1:p.Gln1717=
XM_011544660.1:c.5058_5070delinsACAGCAGCCGCAG	XP_011542962.1:p.Gln1686=
XM_011544656.2:c.5172_5184delinsACAGCAGCCGCAG	XP_011542958.1:p.Gln1724=
XM_011544657.3:c.5172_5184delinsACAGCAGCCGCAG	XP_011542959.1:p.Gln1724=
XM_011544658.3:c.5172_5184delinsACAGCAGCCGCAG	XP_011542960.1:p.Gln1724=
XM_011544659.2:c.5151_5163delinsACAGCAGCCGCAG	XP_011542961.1:p.Gln1717=
XM_017013863.1:c.5040_5052delinsACAGCAGCCGCAG	XP_016869352.1:p.Gln1680=
XM_017013864.2:c.5040_5052delinsACAGCAGCCGCAG	XP_016869353.1:p.Gln1680=
XM_024447285.1:c.3612_3624delinsACAGCAGCCGCAG	XP_024303053.1:p.Gln1204=
NM_006766.5:c.5040_5052delinsACAGCAGCCGCAG MANE Select	NP_006757.2:p.Gln1680=