Canonical Allele Identifier: CA2840022481
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933141_41933203del , CM000670.2:g.41933141_41933203del GRCh38
NC_000008.10:g.41790659_41790721del , CM000670.1:g.41790659_41790721del GRCh37
NC_000008.9:g.41909816_41909878del NCBI36
NG_042093.1:g.123826_123888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5019_5081del MANE Select ENSP00000265713.2:p.Pro1674_Pro1694del
ENST00000396930.4:c.5019_5081del ENSP00000380136.3:p.Pro1674_Pro1694del
ENST00000406337.6:c.5025_5087del ENSP00000385888.2:p.Pro1676_Pro1696del
ENST00000649817.1:c.3700_3762del
ENST00000265713.6:c.5019_5081del ENSP00000265713.2:p.Pro1674_Pro1694del
ENST00000396930.3:c.5019_5081del ENSP00000380136.3:p.Pro1674_Pro1694del
ENST00000406337.5:c.5019_5081del ENSP00000385888.1:p.Pro1674_Pro1694del
NM_001099412.1:c.5019_5081del NP_001092882.1:p.Pro1674_Pro1694del
NM_001099413.1:c.5019_5081del NP_001092883.1:p.Pro1674_Pro1694del
NM_006766.3:c.5019_5081del NP_006757.2:p.Pro1674_Pro1694del
NM_006766.4:c.5019_5081del NP_006757.2:p.Pro1674_Pro1694del
XM_011544656.1:c.5151_5213del XP_011542958.1:p.Pro1718_Pro1738del
XM_011544657.1:c.5151_5213del XP_011542959.1:p.Pro1718_Pro1738del
XM_011544658.1:c.5151_5213del XP_011542960.1:p.Pro1718_Pro1738del
XM_011544659.1:c.5130_5192del XP_011542961.1:p.Pro1711_Pro1731del
XM_011544660.1:c.5037_5099del XP_011542962.1:p.Pro1680_Pro1700del
XM_011544656.2:c.5151_5213del XP_011542958.1:p.Pro1718_Pro1738del
XM_011544657.3:c.5151_5213del XP_011542959.1:p.Pro1718_Pro1738del
XM_011544658.3:c.5151_5213del XP_011542960.1:p.Pro1718_Pro1738del
XM_011544659.2:c.5130_5192del XP_011542961.1:p.Pro1711_Pro1731del
XM_017013863.1:c.5019_5081del XP_016869352.1:p.Pro1674_Pro1694del
XM_017013864.2:c.5019_5081del XP_016869353.1:p.Pro1674_Pro1694del
XM_024447285.1:c.3591_3653del XP_024303053.1:p.Pro1198_Pro1218del
NM_006766.5:c.5019_5081del MANE Select NP_006757.2:p.Pro1674_Pro1694del