Canonical Allele Identifier: CA658797447

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 523499
• ClinVar RCV Id: RCV000626909
• dbSNP Id: rs1554844486
• MyVariant Identifiers: chr10:g.76784742_76784745del (hg19) ; chr10:g.75024984_75024987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75024984_75024987del , CM000672.2:g.75024984_75024987del	GRCh38
NC_000010.10:g.76784742_76784745del , CM000672.1:g.76784742_76784745del	GRCh37
NC_000010.9:g.76454748_76454751del	NCBI36
NG_032048.1:g.203572_203575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.3399_3402del MANE Select	ENSP00000287239.4:p.Arg1133SerfsTer11
ENST00000372711.2:c.2850_2853del	ENSP00000361796.1:p.Arg950SerfsTer11
ENST00000372714.6:c.2523_2526del	ENSP00000361799.1:p.Arg841SerfsTer11
ENST00000372724.6:c.2850_2853del	ENSP00000361809.2:p.Arg950SerfsTer11
ENST00000372725.6:c.2523_2526del	ENSP00000361810.1:p.Arg841SerfsTer11
ENST00000648048.1:c.3399_3402del	ENSP00000497325.1:p.Arg1133SerfsTer11
ENST00000648370.1:c.2850_2853del	ENSP00000497804.1:p.Arg950SerfsTer11
ENST00000648725.1:c.3399_3402del	ENSP00000497841.1:p.Arg1133SerfsTer11
ENST00000648793.1:n.3877_3880del
ENST00000648892.1:c.2523_2526del	ENSP00000497048.1:p.Arg841SerfsTer11
ENST00000649006.1:c.2523_2526del	ENSP00000498139.1:p.Arg841SerfsTer11
ENST00000649463.1:c.3399_3402del	ENSP00000497166.1:p.Arg1133SerfsTer11
ENST00000650232.1:c.2334_2337del	ENSP00000497570.1:p.Arg778SerfsTer11
ENST00000287239.8:c.3399_3402del	ENSP00000287239.4:p.Arg1133SerfsTer11
ENST00000372711.1:c.2850_2853del	ENSP00000361796.1:p.Arg950SerfsTer11
ENST00000372714.5:c.2523_2526del	ENSP00000361799.1:p.Arg841SerfsTer11
ENST00000372724.5:c.2523_2526del	ENSP00000361809.1:p.Arg841SerfsTer11
ENST00000372725.5:c.2523_2526del	ENSP00000361810.1:p.Arg841SerfsTer11
ENST00000490365.1:n.5352_5355del
NM_001256468.1:c.2850_2853del	NP_001243397.1:p.Arg950SerfsTer11
NM_001256469.1:c.2523_2526del	NP_001243398.1:p.Arg841SerfsTer11
NM_012330.3:c.3399_3402del	NP_036462.2:p.Arg1133SerfsTer11
XM_005269664.2:c.3399_3402del	XP_005269721.1:p.Arg1133SerfsTer11
XM_017016000.2:c.3399_3402del	XP_016871489.1:p.Arg1133SerfsTer11
XM_017016002.1:c.3399_3402del	XP_016871491.1:p.Arg1133SerfsTer11
XM_017016003.1:c.3399_3402del	XP_016871492.1:p.Arg1133SerfsTer11
XM_017016004.2:c.3237_3240del	XP_016871493.1:p.Arg1079SerfsTer11
XM_017016005.2:c.2850_2853del	XP_016871494.1:p.Arg950SerfsTer11
XM_017016006.2:c.2523_2526del	XP_016871495.1:p.Arg841SerfsTer11
XM_017016008.2:c.2523_2526del	XP_016871497.1:p.Arg841SerfsTer11
XM_017016009.1:c.2361_2364del	XP_016871498.1:p.Arg787SerfsTer11
NM_012330.4:c.3399_3402del MANE Select	NP_036462.2:p.Arg1133SerfsTer11
NM_001370132.1:c.2361_2364del	NP_001357061.1:p.Arg787SerfsTer11
NM_001370133.1:c.1710_1713del	NP_001357062.1:p.Arg570SerfsTer11
NM_001370134.1:c.1314_1317del	NP_001357063.1:p.Arg438SerfsTer11
NM_001370135.1:c.1056_1059del	NP_001357064.1:p.Arg352SerfsTer11
NM_001370136.1:c.3399_3402del	NP_001357065.1:p.Arg1133SerfsTer11
NM_001370137.1:c.3399_3402del	NP_001357066.1:p.Arg1133SerfsTer11
NM_001370138.1:c.2850_2853del	NP_001357067.1:p.Arg950SerfsTer11
NM_001370139.1:c.2523_2526del	NP_001357068.1:p.Arg841SerfsTer11
NM_001370140.1:c.2523_2526del	NP_001357069.1:p.Arg841SerfsTer11
NM_001370141.1:c.2523_2526del	NP_001357070.1:p.Arg841SerfsTer11
NM_001370142.1:c.2523_2526del	NP_001357071.1:p.Arg841SerfsTer11
NM_001370143.1:c.2334_2337del	NP_001357072.1:p.Arg778SerfsTer11
NM_001370144.1:c.2334_2337del	NP_001357073.1:p.Arg778SerfsTer11
NM_001256468.2:c.2850_2853del	NP_001243397.1:p.Arg950SerfsTer11
NM_001256469.2:c.2523_2526del	NP_001243398.1:p.Arg841SerfsTer11