Canonical Allele Identifier: CA915945664

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 724518
• ClinVar RCV Id: RCV000898442
• dbSNP Id: rs1587707288

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933238_41933246dup , CM000670.2:g.41933238_41933246dup	GRCh38
NC_000008.10:g.41790756_41790764dup , CM000670.1:g.41790756_41790764dup	GRCh37
NC_000008.9:g.41909913_41909921dup	NCBI36
NG_042093.1:g.123784_123792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4977_4985dup MANE Select	ENSP00000265713.2:p.Pro1662_Pro1663insGlnProPro
ENST00000396930.4:c.4977_4985dup	ENSP00000380136.3:p.Pro1662_Pro1663insGlnProPro
ENST00000406337.6:c.4983_4991dup	ENSP00000385888.2:p.Pro1664_Pro1665insGlnProPro
ENST00000648335.1:c.4977_4985dup	ENSP00000497086.1:p.Pro1662_Pro1663insGlnProPro
ENST00000649817.1:c.3658_3666dup
ENST00000265713.6:c.4977_4985dup	ENSP00000265713.2:p.Pro1662_Pro1663insGlnProPro
ENST00000396930.3:c.4977_4985dup	ENSP00000380136.3:p.Pro1662_Pro1663insGlnProPro
ENST00000406337.5:c.4977_4985dup	ENSP00000385888.1:p.Pro1662_Pro1663insGlnProPro
NM_001099412.1:c.4977_4985dup	NP_001092882.1:p.Pro1662_Pro1663insGlnProPro
NM_001099413.1:c.4977_4985dup	NP_001092883.1:p.Pro1662_Pro1663insGlnProPro
NM_006766.3:c.4977_4985dup	NP_006757.2:p.Pro1662_Pro1663insGlnProPro
NM_006766.4:c.4977_4985dup	NP_006757.2:p.Pro1662_Pro1663insGlnProPro
XM_011544656.1:c.5109_5117dup	XP_011542958.1:p.Pro1706_Pro1707insGlnProPro
XM_011544657.1:c.5109_5117dup	XP_011542959.1:p.Pro1706_Pro1707insGlnProPro
XM_011544658.1:c.5109_5117dup	XP_011542960.1:p.Pro1706_Pro1707insGlnProPro
XM_011544659.1:c.5088_5096dup	XP_011542961.1:p.Pro1699_Pro1700insGlnProPro
XM_011544660.1:c.4995_5003dup	XP_011542962.1:p.Pro1668_Pro1669insGlnProPro
XM_011544656.2:c.5109_5117dup	XP_011542958.1:p.Pro1706_Pro1707insGlnProPro
XM_011544657.3:c.5109_5117dup	XP_011542959.1:p.Pro1706_Pro1707insGlnProPro
XM_011544658.3:c.5109_5117dup	XP_011542960.1:p.Pro1706_Pro1707insGlnProPro
XM_011544659.2:c.5088_5096dup	XP_011542961.1:p.Pro1699_Pro1700insGlnProPro
XM_017013863.1:c.4977_4985dup	XP_016869352.1:p.Pro1662_Pro1663insGlnProPro
XM_017013864.2:c.4977_4985dup	XP_016869353.1:p.Pro1662_Pro1663insGlnProPro
XM_024447285.1:c.3549_3557dup	XP_024303053.1:p.Pro1186_Pro1187insGlnProPro
NM_006766.5:c.4977_4985dup MANE Select	NP_006757.2:p.Pro1662_Pro1663insGlnProPro