Canonical Allele Identifier: CA1139532827
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41934843del , CM000670.2:g.41934843del GRCh38
NC_000008.10:g.41792361del , CM000670.1:g.41792361del GRCh37
NC_000008.9:g.41911518del NCBI36
NG_042093.1:g.122184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.3377del MANE Select ENSP00000265713.2:p.Ser1126PhefsTer8
ENST00000396930.4:c.3377del ENSP00000380136.3:p.Ser1126PhefsTer8
ENST00000406337.6:c.3383del ENSP00000385888.2:p.Ser1128PhefsTer8
ENST00000648335.1:c.3377del ENSP00000497086.1:p.Ser1126PhefsTer8
ENST00000649817.1:c.2058del
ENST00000649827.1:c.*2351del ENSP00000497447.1:n.*2351del
ENST00000650495.1:n.6745del
ENST00000265713.6:c.3377del ENSP00000265713.2:p.Ser1126PhefsTer8
ENST00000396930.3:c.3377del ENSP00000380136.3:p.Ser1126PhefsTer8
ENST00000406337.5:c.3377del ENSP00000385888.1:p.Ser1126PhefsTer8
ENST00000418721.5:c.2117del ENSP00000399638.1:p.Ser706PhefsTer8
NM_001099412.1:c.3377del NP_001092882.1:p.Ser1126PhefsTer8
NM_001099413.1:c.3377del NP_001092883.1:p.Ser1126PhefsTer8
NM_006766.3:c.3377del NP_006757.2:p.Ser1126PhefsTer8
NM_006766.4:c.3377del NP_006757.2:p.Ser1126PhefsTer8
XM_011544656.1:c.3509del XP_011542958.1:p.Ser1170PhefsTer8
XM_011544657.1:c.3509del XP_011542959.1:p.Ser1170PhefsTer8
XM_011544658.1:c.3509del XP_011542960.1:p.Ser1170PhefsTer8
XM_011544659.1:c.3488del XP_011542961.1:p.Ser1163PhefsTer8
XM_011544660.1:c.3395del XP_011542962.1:p.Ser1132PhefsTer8
XM_011544656.2:c.3509del XP_011542958.1:p.Ser1170PhefsTer8
XM_011544657.3:c.3509del XP_011542959.1:p.Ser1170PhefsTer8
XM_011544658.3:c.3509del XP_011542960.1:p.Ser1170PhefsTer8
XM_011544659.2:c.3488del XP_011542961.1:p.Ser1163PhefsTer8
XM_017013863.1:c.3377del XP_016869352.1:p.Ser1126PhefsTer8
XM_017013864.2:c.3377del XP_016869353.1:p.Ser1126PhefsTer8
XM_024447285.1:c.1949del XP_024303053.1:p.Ser650PhefsTer8
NM_006766.5:c.3377del MANE Select NP_006757.2:p.Ser1126PhefsTer8