Canonical Allele Identifier: CA1779195784
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933155_41933156delinsGC , CM000670.2:g.41933155_41933156delinsGC GRCh38
NC_000008.10:g.41790673_41790674delinsGC , CM000670.1:g.41790673_41790674delinsGC GRCh37
NC_000008.9:g.41909830_41909831delinsGC NCBI36
NG_042093.1:g.123871_123872delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5064_5065delinsGC MANE Select ENSP00000265713.2:p.Gln1688=
ENST00000396930.4:c.5064_5065delinsGC ENSP00000380136.3:p.Gln1688=
ENST00000406337.6:c.5070_5071delinsGC ENSP00000385888.2:p.Gln1690=
ENST00000649817.1:c.3745_3746delinsGC
ENST00000265713.6:c.5064_5065delinsGC ENSP00000265713.2:p.Gln1688=
ENST00000396930.3:c.5064_5065delinsGC ENSP00000380136.3:p.Gln1688=
ENST00000406337.5:c.5064_5065delinsGC ENSP00000385888.1:p.Gln1688=
NM_001099412.1:c.5064_5065delinsGC NP_001092882.1:p.Gln1688=
NM_001099413.1:c.5064_5065delinsGC NP_001092883.1:p.Gln1688=
NM_006766.3:c.5064_5065delinsGC NP_006757.2:p.Gln1688=
NM_006766.4:c.5064_5065delinsGC NP_006757.2:p.Gln1688=
XM_011544656.1:c.5196_5197delinsGC XP_011542958.1:p.Gln1732=
XM_011544657.1:c.5196_5197delinsGC XP_011542959.1:p.Gln1732=
XM_011544658.1:c.5196_5197delinsGC XP_011542960.1:p.Gln1732=
XM_011544659.1:c.5175_5176delinsGC XP_011542961.1:p.Gln1725=
XM_011544660.1:c.5082_5083delinsGC XP_011542962.1:p.Gln1694=
XM_011544656.2:c.5196_5197delinsGC XP_011542958.1:p.Gln1732=
XM_011544657.3:c.5196_5197delinsGC XP_011542959.1:p.Gln1732=
XM_011544658.3:c.5196_5197delinsGC XP_011542960.1:p.Gln1732=
XM_011544659.2:c.5175_5176delinsGC XP_011542961.1:p.Gln1725=
XM_017013863.1:c.5064_5065delinsGC XP_016869352.1:p.Gln1688=
XM_017013864.2:c.5064_5065delinsGC XP_016869353.1:p.Gln1688=
XM_024447285.1:c.3636_3637delinsGC XP_024303053.1:p.Gln1212=
NM_006766.5:c.5064_5065delinsGC MANE Select NP_006757.2:p.Gln1688=