Canonical Allele Identifier: CA357999
Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 225094
ClinVar RCV Id: RCV000210551
dbSNP Id: rs869312962

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.75022123dup , CM000672.2:g.75022123dup GRCh38
NC_000010.10:g.76781881dup , CM000672.1:g.76781881dup GRCh37
NC_000010.9:g.76451887dup NCBI36
NG_032048.1:g.200711dup

Transcript Alleles

HGVS Amino-acid change
ENST00000287239.10:c.3264dup MANE Select ENSP00000287239.4:p.Glu1089ArgfsTer3
ENST00000372711.2:c.2715dup ENSP00000361796.1:p.Glu906ArgfsTer3
ENST00000372714.6:c.2388dup ENSP00000361799.1:p.Glu797ArgfsTer3
ENST00000372724.6:c.2715dup ENSP00000361809.2:p.Glu906ArgfsTer3
ENST00000372725.6:c.2388dup ENSP00000361810.1:p.Glu797ArgfsTer3
ENST00000647637.1:c.2388dup ENSP00000497620.1:p.Glu797ArgfsTer3
ENST00000648048.1:c.3264dup ENSP00000497325.1:p.Glu1089ArgfsTer3
ENST00000648369.1:c.*422dup ENSP00000496795.1:n.*422dup
ENST00000648370.1:c.2715dup ENSP00000497804.1:p.Glu906ArgfsTer3
ENST00000648725.1:c.3264dup ENSP00000497841.1:p.Glu1089ArgfsTer3
ENST00000648793.1:n.3742dup
ENST00000648892.1:c.2388dup ENSP00000497048.1:p.Glu797ArgfsTer3
ENST00000648899.1:c.2388dup ENSP00000497198.1:p.Glu797ArgfsTer3
ENST00000649006.1:c.2388dup ENSP00000498139.1:p.Glu797ArgfsTer3
ENST00000649305.1:n.1579dup
ENST00000649375.1:c.2715dup ENSP00000498141.1:p.Glu906ArgfsTer3
ENST00000649463.1:c.3264dup ENSP00000497166.1:p.Glu1089ArgfsTer3
ENST00000650232.1:c.2199dup ENSP00000497570.1:p.Glu734ArgfsTer3
ENST00000650610.1:n.2309dup
ENST00000287239.8:c.3264dup ENSP00000287239.4:p.Glu1089ArgfsTer3
ENST00000372711.1:c.2715dup ENSP00000361796.1:p.Glu906ArgfsTer3
ENST00000372714.5:c.2388dup ENSP00000361799.1:p.Glu797ArgfsTer3
ENST00000372724.5:c.2388dup ENSP00000361809.1:p.Glu797ArgfsTer3
ENST00000372725.5:c.2388dup ENSP00000361810.1:p.Glu797ArgfsTer3
ENST00000490365.1:n.5217dup
NM_001256468.1:c.2715dup NP_001243397.1:p.Glu906ArgfsTer3
NM_001256469.1:c.2388dup NP_001243398.1:p.Glu797ArgfsTer3
NM_012330.3:c.3264dup NP_036462.2:p.Glu1089ArgfsTer3
XM_005269664.2:c.3264dup XP_005269721.1:p.Glu1089ArgfsTer3
XM_017016000.2:c.3264dup XP_016871489.1:p.Glu1089ArgfsTer3
XM_017016002.1:c.3264dup XP_016871491.1:p.Glu1089ArgfsTer3
XM_017016003.1:c.3264dup XP_016871492.1:p.Glu1089ArgfsTer3
XM_017016004.2:c.3102dup XP_016871493.1:p.Glu1035ArgfsTer3
XM_017016005.2:c.2715dup XP_016871494.1:p.Glu906ArgfsTer3
XM_017016006.2:c.2388dup XP_016871495.1:p.Glu797ArgfsTer3
XM_017016008.2:c.2388dup XP_016871497.1:p.Glu797ArgfsTer3
XM_017016009.1:c.2226dup XP_016871498.1:p.Glu743ArgfsTer3
NM_012330.4:c.3264dup MANE Select NP_036462.2:p.Glu1089ArgfsTer3
NM_001370132.1:c.2226dup NP_001357061.1:p.Glu743ArgfsTer3
NM_001370133.1:c.1575dup NP_001357062.1:p.Glu526ArgfsTer3
NM_001370134.1:c.1179dup NP_001357063.1:p.Glu394ArgfsTer3
NM_001370135.1:c.921dup NP_001357064.1:p.Glu308ArgfsTer3
NM_001370136.1:c.3264dup NP_001357065.1:p.Glu1089ArgfsTer3
NM_001370137.1:c.3264dup NP_001357066.1:p.Glu1089ArgfsTer3
NM_001370138.1:c.2715dup NP_001357067.1:p.Glu906ArgfsTer3
NM_001370139.1:c.2388dup NP_001357068.1:p.Glu797ArgfsTer3
NM_001370140.1:c.2388dup NP_001357069.1:p.Glu797ArgfsTer3
NM_001370141.1:c.2388dup NP_001357070.1:p.Glu797ArgfsTer3
NM_001370142.1:c.2388dup NP_001357071.1:p.Glu797ArgfsTer3
NM_001370143.1:c.2199dup NP_001357072.1:p.Glu734ArgfsTer3
NM_001370144.1:c.2199dup NP_001357073.1:p.Glu734ArgfsTer3
NM_001256468.2:c.2715dup NP_001243397.1:p.Glu906ArgfsTer3
NM_001256469.2:c.2388dup NP_001243398.1:p.Glu797ArgfsTer3