Canonical Allele Identifier: CA2687076940
Gene: KAT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933165_41933170dup , CM000670.2:g.41933165_41933170dup GRCh38
NC_000008.10:g.41790683_41790688dup , CM000670.1:g.41790683_41790688dup GRCh37
NC_000008.9:g.41909840_41909845dup NCBI36
NG_042093.1:g.123862_123867dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5055_5060dup MANE Select ENSP00000265713.2:p.Pro1687_Gln1688insGlnPro
ENST00000396930.4:c.5055_5060dup ENSP00000380136.3:p.Pro1687_Gln1688insGlnPro
ENST00000406337.6:c.5061_5066dup ENSP00000385888.2:p.Pro1689_Gln1690insGlnPro
ENST00000649817.1:c.3736_3741dup
ENST00000265713.6:c.5055_5060dup ENSP00000265713.2:p.Pro1687_Gln1688insGlnPro
ENST00000396930.3:c.5055_5060dup ENSP00000380136.3:p.Pro1687_Gln1688insGlnPro
ENST00000406337.5:c.5055_5060dup ENSP00000385888.1:p.Pro1687_Gln1688insGlnPro
NM_001099412.1:c.5055_5060dup NP_001092882.1:p.Pro1687_Gln1688insGlnPro
NM_001099413.1:c.5055_5060dup NP_001092883.1:p.Pro1687_Gln1688insGlnPro
NM_006766.3:c.5055_5060dup NP_006757.2:p.Pro1687_Gln1688insGlnPro
NM_006766.4:c.5055_5060dup NP_006757.2:p.Pro1687_Gln1688insGlnPro
XM_011544656.1:c.5187_5192dup XP_011542958.1:p.Pro1731_Gln1732insGlnPro
XM_011544657.1:c.5187_5192dup XP_011542959.1:p.Pro1731_Gln1732insGlnPro
XM_011544658.1:c.5187_5192dup XP_011542960.1:p.Pro1731_Gln1732insGlnPro
XM_011544659.1:c.5166_5171dup XP_011542961.1:p.Pro1724_Gln1725insGlnPro
XM_011544660.1:c.5073_5078dup XP_011542962.1:p.Pro1693_Gln1694insGlnPro
XM_011544656.2:c.5187_5192dup XP_011542958.1:p.Pro1731_Gln1732insGlnPro
XM_011544657.3:c.5187_5192dup XP_011542959.1:p.Pro1731_Gln1732insGlnPro
XM_011544658.3:c.5187_5192dup XP_011542960.1:p.Pro1731_Gln1732insGlnPro
XM_011544659.2:c.5166_5171dup XP_011542961.1:p.Pro1724_Gln1725insGlnPro
XM_017013863.1:c.5055_5060dup XP_016869352.1:p.Pro1687_Gln1688insGlnPro
XM_017013864.2:c.5055_5060dup XP_016869353.1:p.Pro1687_Gln1688insGlnPro
XM_024447285.1:c.3627_3632dup XP_024303053.1:p.Pro1211_Gln1212insGlnPro
NM_006766.5:c.5055_5060dup MANE Select NP_006757.2:p.Pro1687_Gln1688insGlnPro