Canonical Allele Identifier: CA2788570975

Gene: KAT6B

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75020865_75020866insCCAAACACACCCAACAC , CM000672.2:g.75020865_75020866insCCAAACACACCCAACAC	GRCh38
NC_000010.10:g.76780623_76780624insCCAAACACACCCAACAC , CM000672.1:g.76780623_76780624insCCAAACACACCCAACAC	GRCh37
NC_000010.9:g.76450629_76450630insCCAAACACACCCAACAC	NCBI36
NG_032048.1:g.199453_199454insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.2861+52_2861+53insCCAAACACACCCAACAC MANE Select	ENSP00000287239.4:n.2861+52_2861+53insCCAAACACACCCAACAC
ENST00000372711.2:c.2312+52_2312+53insCCAAACACACCCAACAC	ENSP00000361796.1:n.2312+52_2312+53insCCAAACACACCCAACAC
ENST00000372714.6:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000361799.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000372724.6:c.2312+52_2312+53insCCAAACACACCCAACAC	ENSP00000361809.2:n.2312+52_2312+53insCCAAACACACCCAACAC
ENST00000372725.6:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000361810.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000647637.1:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000497620.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000647666.1:c.1823+52_1823+53insCCAAACACACCCAACAC	ENSP00000497307.1:n.1823+52_1823+53insCCAAACACACCCAACAC
ENST00000647891.1:n.4016+52_4016+53insCCAAACACACCCAACAC
ENST00000648048.1:c.2861+52_2861+53insCCAAACACACCCAACAC	ENSP00000497325.1:n.2861+52_2861+53insCCAAACACACCCAACAC
ENST00000648159.1:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000497197.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000648369.1:c.*19+52_*19+53insCCAAACACACCCAACAC	ENSP00000496795.1:n.*19+52_*19+53insCCAAACACACCCAACAC
ENST00000648370.1:c.2312+52_2312+53insCCAAACACACCCAACAC	ENSP00000497804.1:n.2312+52_2312+53insCCAAACACACCCAACAC
ENST00000648483.1:c.1172+52_1172+53insCCAAACACACCCAACAC	ENSP00000498153.1:n.1172+52_1172+53insCCAAACACACCCAACAC
ENST00000648725.1:c.2861+52_2861+53insCCAAACACACCCAACAC	ENSP00000497841.1:n.2861+52_2861+53insCCAAACACACCCAACAC
ENST00000648793.1:n.3339+52_3339+53insCCAAACACACCCAACAC
ENST00000648892.1:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000497048.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000648899.1:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000497198.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000649006.1:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000498139.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000649305.1:n.1176+52_1176+53insCCAAACACACCCAACAC
ENST00000649375.1:c.2312+52_2312+53insCCAAACACACCCAACAC	ENSP00000498141.1:n.2312+52_2312+53insCCAAACACACCCAACAC
ENST00000649463.1:c.2861+52_2861+53insCCAAACACACCCAACAC	ENSP00000497166.1:n.2861+52_2861+53insCCAAACACACCCAACAC
ENST00000649657.1:c.1796+52_1796+53insCCAAACACACCCAACAC	ENSP00000497491.1:n.1796+52_1796+53insCCAAACACACCCAACAC
ENST00000650048.1:c.1634+52_1634+53insCCAAACACACCCAACAC	ENSP00000497813.1:n.1634+52_1634+53insCCAAACACACCCAACAC
ENST00000650232.1:c.1796+52_1796+53insCCAAACACACCCAACAC	ENSP00000497570.1:n.1796+52_1796+53insCCAAACACACCCAACAC
ENST00000650380.1:n.4325+52_4325+53insCCAAACACACCCAACAC
ENST00000650610.1:n.1311+52_1311+53insCCAAACACACCCAACAC
ENST00000287239.8:c.2861+52_2861+53insCCAAACACACCCAACAC	ENSP00000287239.4:n.2861+52_2861+53insCCAAACACACCCAACAC
ENST00000372711.1:c.2312+52_2312+53insCCAAACACACCCAACAC	ENSP00000361796.1:n.2312+52_2312+53insCCAAACACACCCAACAC
ENST00000372714.5:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000361799.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000372724.5:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000361809.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000372725.5:c.1985+52_1985+53insCCAAACACACCCAACAC	ENSP00000361810.1:n.1985+52_1985+53insCCAAACACACCCAACAC
ENST00000490365.1:n.4814+52_4814+53insCCAAACACACCCAACAC
NM_001256468.1:c.2312+52_2312+53insCCAAACACACCCAACAC	NP_001243397.1:n.2312+52_2312+53insCCAAACACACCCAACAC
NM_001256469.1:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001243398.1:n.1985+52_1985+53insCCAAACACACCCAACAC
NM_012330.3:c.2861+52_2861+53insCCAAACACACCCAACAC	NP_036462.2:n.2861+52_2861+53insCCAAACACACCCAACAC
XM_005269664.2:c.2861+52_2861+53insCCAAACACACCCAACAC	XP_005269721.1:n.2861+52_2861+53insCCAAACACACCCAACAC
XM_017016000.2:c.2861+52_2861+53insCCAAACACACCCAACAC	XP_016871489.1:n.2861+52_2861+53insCCAAACACACCCAACAC
XM_017016002.1:c.2861+52_2861+53insCCAAACACACCCAACAC	XP_016871491.1:n.2861+52_2861+53insCCAAACACACCCAACAC
XM_017016003.1:c.2861+52_2861+53insCCAAACACACCCAACAC	XP_016871492.1:n.2861+52_2861+53insCCAAACACACCCAACAC
XM_017016004.2:c.2699+52_2699+53insCCAAACACACCCAACAC	XP_016871493.1:n.2699+52_2699+53insCCAAACACACCCAACAC
XM_017016005.2:c.2312+52_2312+53insCCAAACACACCCAACAC	XP_016871494.1:n.2312+52_2312+53insCCAAACACACCCAACAC
XM_017016006.2:c.1985+52_1985+53insCCAAACACACCCAACAC	XP_016871495.1:n.1985+52_1985+53insCCAAACACACCCAACAC
XM_017016008.2:c.1985+52_1985+53insCCAAACACACCCAACAC	XP_016871497.1:n.1985+52_1985+53insCCAAACACACCCAACAC
XM_017016009.1:c.1823+52_1823+53insCCAAACACACCCAACAC	XP_016871498.1:n.1823+52_1823+53insCCAAACACACCCAACAC
NM_012330.4:c.2861+52_2861+53insCCAAACACACCCAACAC MANE Select	NP_036462.2:n.2861+52_2861+53insCCAAACACACCCAACAC
NM_001370132.1:c.1823+52_1823+53insCCAAACACACCCAACAC	NP_001357061.1:n.1823+52_1823+53insCCAAACACACCCAACAC
NM_001370133.1:c.1172+52_1172+53insCCAAACACACCCAACAC	NP_001357062.1:n.1172+52_1172+53insCCAAACACACCCAACAC
NM_001370134.1:c.776+52_776+53insCCAAACACACCCAACAC	NP_001357063.1:n.776+52_776+53insCCAAACACACCCAACAC
NM_001370135.1:c.518+52_518+53insCCAAACACACCCAACAC	NP_001357064.1:n.518+52_518+53insCCAAACACACCCAACAC
NM_001370136.1:c.2861+52_2861+53insCCAAACACACCCAACAC	NP_001357065.1:n.2861+52_2861+53insCCAAACACACCCAACAC
NM_001370137.1:c.2861+52_2861+53insCCAAACACACCCAACAC	NP_001357066.1:n.2861+52_2861+53insCCAAACACACCCAACAC
NM_001370138.1:c.2312+52_2312+53insCCAAACACACCCAACAC	NP_001357067.1:n.2312+52_2312+53insCCAAACACACCCAACAC
NM_001370139.1:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001357068.1:n.1985+52_1985+53insCCAAACACACCCAACAC
NM_001370140.1:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001357069.1:n.1985+52_1985+53insCCAAACACACCCAACAC
NM_001370141.1:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001357070.1:n.1985+52_1985+53insCCAAACACACCCAACAC
NM_001370142.1:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001357071.1:n.1985+52_1985+53insCCAAACACACCCAACAC
NM_001370143.1:c.1796+52_1796+53insCCAAACACACCCAACAC	NP_001357072.1:n.1796+52_1796+53insCCAAACACACCCAACAC
NM_001370144.1:c.1796+52_1796+53insCCAAACACACCCAACAC	NP_001357073.1:n.1796+52_1796+53insCCAAACACACCCAACAC
NM_001256468.2:c.2312+52_2312+53insCCAAACACACCCAACAC	NP_001243397.1:n.2312+52_2312+53insCCAAACACACCCAACAC
NM_001256469.2:c.1985+52_1985+53insCCAAACACACCCAACAC	NP_001243398.1:n.1985+52_1985+53insCCAAACACACCCAACAC