Canonical Allele Identifier: CA16043623

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 374242
• ClinVar RCV Id: RCV000415232
• dbSNP Id: rs1057519003
• MyVariant Identifiers: chr10:g.76781771_76781786del (hg19) ; chr10:g.75022013_75022028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75022013_75022028del , CM000672.2:g.75022013_75022028del	GRCh38
NC_000010.10:g.76781771_76781786del , CM000672.1:g.76781771_76781786del	GRCh37
NC_000010.9:g.76451777_76451792del	NCBI36
NG_032048.1:g.200601_200616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.3154_3169del MANE Select	ENSP00000287239.4:p.Arg1052SerfsTer?
ENST00000372711.2:c.2605_2620del	ENSP00000361796.1:p.Arg869SerfsTer?
ENST00000372714.6:c.2278_2293del	ENSP00000361799.1:p.Arg760SerfsTer?
ENST00000372724.6:c.2605_2620del	ENSP00000361809.2:p.Arg869SerfsTer?
ENST00000372725.6:c.2278_2293del	ENSP00000361810.1:p.Arg760SerfsTer?
ENST00000647637.1:c.2278_2293del	ENSP00000497620.1:p.Arg760SerfsTer?
ENST00000647666.1:c.2116_2131del	ENSP00000497307.1:p.Arg706SerfsTer?
ENST00000648048.1:c.3154_3169del	ENSP00000497325.1:p.Arg1052SerfsTer?
ENST00000648159.1:c.2278_2293del	ENSP00000497197.1:p.Arg760SerfsTer?
ENST00000648369.1:c.*312_*327del	ENSP00000496795.1:n.*312_*327del
ENST00000648370.1:c.2605_2620del	ENSP00000497804.1:p.Arg869SerfsTer?
ENST00000648483.1:c.1465_1480del	ENSP00000498153.1:p.Arg489SerfsTer?
ENST00000648725.1:c.3154_3169del	ENSP00000497841.1:p.Arg1052SerfsTer?
ENST00000648793.1:n.3632_3647del
ENST00000648892.1:c.2278_2293del	ENSP00000497048.1:p.Arg760SerfsTer?
ENST00000648899.1:c.2278_2293del	ENSP00000497198.1:p.Arg760SerfsTer?
ENST00000649006.1:c.2278_2293del	ENSP00000498139.1:p.Arg760SerfsTer?
ENST00000649305.1:n.1469_1484del
ENST00000649375.1:c.2605_2620del	ENSP00000498141.1:p.Arg869SerfsTer?
ENST00000649463.1:c.3154_3169del	ENSP00000497166.1:p.Arg1052SerfsTer?
ENST00000649657.1:c.2089_2104del	ENSP00000497491.1:p.Arg697SerfsTer?
ENST00000650232.1:c.2089_2104del	ENSP00000497570.1:p.Arg697SerfsTer?
ENST00000650610.1:n.2199_2214del
ENST00000287239.8:c.3154_3169del	ENSP00000287239.4:p.Arg1052SerfsTer?
ENST00000372711.1:c.2605_2620del	ENSP00000361796.1:p.Arg869SerfsTer?
ENST00000372714.5:c.2278_2293del	ENSP00000361799.1:p.Arg760SerfsTer?
ENST00000372724.5:c.2278_2293del	ENSP00000361809.1:p.Arg760SerfsTer?
ENST00000372725.5:c.2278_2293del	ENSP00000361810.1:p.Arg760SerfsTer?
ENST00000490365.1:n.5107_5122del
NM_001256468.1:c.2605_2620del	NP_001243397.1:p.Arg869SerfsTer?
NM_001256469.1:c.2278_2293del	NP_001243398.1:p.Arg760SerfsTer?
NM_012330.3:c.3154_3169del	NP_036462.2:p.Arg1052SerfsTer?
XM_005269664.2:c.3154_3169del	XP_005269721.1:p.Arg1052SerfsTer?
XM_017016000.2:c.3154_3169del	XP_016871489.1:p.Arg1052SerfsTer?
XM_017016002.1:c.3154_3169del	XP_016871491.1:p.Arg1052SerfsTer?
XM_017016003.1:c.3154_3169del	XP_016871492.1:p.Arg1052SerfsTer?
XM_017016004.2:c.2992_3007del	XP_016871493.1:p.Arg998SerfsTer?
XM_017016005.2:c.2605_2620del	XP_016871494.1:p.Arg869SerfsTer?
XM_017016006.2:c.2278_2293del	XP_016871495.1:p.Arg760SerfsTer?
XM_017016008.2:c.2278_2293del	XP_016871497.1:p.Arg760SerfsTer?
XM_017016009.1:c.2116_2131del	XP_016871498.1:p.Arg706SerfsTer?
NM_012330.4:c.3154_3169del MANE Select	NP_036462.2:p.Arg1052SerfsTer?
NM_001370132.1:c.2116_2131del	NP_001357061.1:p.Arg706SerfsTer?
NM_001370133.1:c.1465_1480del	NP_001357062.1:p.Arg489SerfsTer?
NM_001370134.1:c.1069_1084del	NP_001357063.1:p.Arg357SerfsTer?
NM_001370135.1:c.811_826del	NP_001357064.1:p.Arg271SerfsTer?
NM_001370136.1:c.3154_3169del	NP_001357065.1:p.Arg1052SerfsTer?
NM_001370137.1:c.3154_3169del	NP_001357066.1:p.Arg1052SerfsTer?
NM_001370138.1:c.2605_2620del	NP_001357067.1:p.Arg869SerfsTer?
NM_001370139.1:c.2278_2293del	NP_001357068.1:p.Arg760SerfsTer?
NM_001370140.1:c.2278_2293del	NP_001357069.1:p.Arg760SerfsTer?
NM_001370141.1:c.2278_2293del	NP_001357070.1:p.Arg760SerfsTer?
NM_001370142.1:c.2278_2293del	NP_001357071.1:p.Arg760SerfsTer?
NM_001370143.1:c.2089_2104del	NP_001357072.1:p.Arg697SerfsTer?
NM_001370144.1:c.2089_2104del	NP_001357073.1:p.Arg697SerfsTer?
NM_001256468.2:c.2605_2620del	NP_001243397.1:p.Arg869SerfsTer?
NM_001256469.2:c.2278_2293del	NP_001243398.1:p.Arg760SerfsTer?