Canonical Allele Identifier: CA2579153674

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933147_41933151del , CM000670.2:g.41933147_41933151del	GRCh38
NC_000008.10:g.41790665_41790669del , CM000670.1:g.41790665_41790669del	GRCh37
NC_000008.9:g.41909822_41909826del	NCBI36
NG_042093.1:g.123877_123881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5070_5074del MANE Select	ENSP00000265713.2:p.Pro1692ThrfsTer13
ENST00000396930.4:c.5070_5074del	ENSP00000380136.3:p.Pro1692ThrfsTer13
ENST00000406337.6:c.5076_5080del	ENSP00000385888.2:p.Pro1694ThrfsTer13
ENST00000649817.1:c.3751_3755del
ENST00000265713.6:c.5070_5074del	ENSP00000265713.2:p.Pro1692ThrfsTer13
ENST00000396930.3:c.5070_5074del	ENSP00000380136.3:p.Pro1692ThrfsTer13
ENST00000406337.5:c.5070_5074del	ENSP00000385888.1:p.Pro1692ThrfsTer13
NM_001099412.1:c.5070_5074del	NP_001092882.1:p.Pro1692ThrfsTer13
NM_001099413.1:c.5070_5074del	NP_001092883.1:p.Pro1692ThrfsTer13
NM_006766.3:c.5070_5074del	NP_006757.2:p.Pro1692ThrfsTer13
NM_006766.4:c.5070_5074del	NP_006757.2:p.Pro1692ThrfsTer13
XM_011544656.1:c.5202_5206del	XP_011542958.1:p.Pro1736ThrfsTer13
XM_011544657.1:c.5202_5206del	XP_011542959.1:p.Pro1736ThrfsTer13
XM_011544658.1:c.5202_5206del	XP_011542960.1:p.Pro1736ThrfsTer13
XM_011544659.1:c.5181_5185del	XP_011542961.1:p.Pro1729ThrfsTer13
XM_011544660.1:c.5088_5092del	XP_011542962.1:p.Pro1698ThrfsTer13
XM_011544656.2:c.5202_5206del	XP_011542958.1:p.Pro1736ThrfsTer13
XM_011544657.3:c.5202_5206del	XP_011542959.1:p.Pro1736ThrfsTer13
XM_011544658.3:c.5202_5206del	XP_011542960.1:p.Pro1736ThrfsTer13
XM_011544659.2:c.5181_5185del	XP_011542961.1:p.Pro1729ThrfsTer13
XM_017013863.1:c.5070_5074del	XP_016869352.1:p.Pro1692ThrfsTer13
XM_017013864.2:c.5070_5074del	XP_016869353.1:p.Pro1692ThrfsTer13
XM_024447285.1:c.3642_3646del	XP_024303053.1:p.Pro1216ThrfsTer13
NM_006766.5:c.5070_5074del MANE Select	NP_006757.2:p.Pro1692ThrfsTer13