Canonical Allele Identifier: CA5564784

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 260238
• ClinVar RCV Id: RCV000246745 ; RCV001033983 ; RCV001529580
• dbSNP Id: rs71929101
• ExAC: 10:76781905 G / GGAA
• gnomAD v2: 10-76781905-G-GGAA
• gnomAD v3: 10-75022147-G-GGAA
• gnomAD v4: 10-75022147-G-GGAA
• COSMIC: COSM1965135
• MyVariant Identifiers: chr10:g.76781927_76781929dupGAA (hg19) ; chr10:g.76781914_76781915insGAA (hg19) ; chr10:g.76781911_76781912insGAA (hg19) ; chr10:g.76781908_76781909insGAA (hg19) ; chr10:g.76781905_76781906insGAA (hg19) ; chr10:g.75022169_75022171dupGAA (hg38) ; chr10:g.75022156_75022157insGAA (hg38) ; chr10:g.75022147_75022148insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75022169_75022171dup , CM000672.2:g.75022169_75022171dup	GRCh38
NC_000010.10:g.76781927_76781929dup , CM000672.1:g.76781927_76781929dup	GRCh37
NC_000010.9:g.76451933_76451935dup	NCBI36
NG_032048.1:g.200757_200759dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000287239.10:c.3310_3312dup MANE Select	ENSP00000287239.4:p.Glu1104_Asn1105insGlu
ENST00000372711.2:c.2761_2763dup	ENSP00000361796.1:p.Glu921_Asn922insGlu
ENST00000372714.6:c.2434_2436dup	ENSP00000361799.1:p.Glu812_Asn813insGlu
ENST00000372724.6:c.2761_2763dup	ENSP00000361809.2:p.Glu921_Asn922insGlu
ENST00000372725.6:c.2434_2436dup	ENSP00000361810.1:p.Glu812_Asn813insGlu
ENST00000648048.1:c.3310_3312dup	ENSP00000497325.1:p.Glu1104_Asn1105insGlu
ENST00000648370.1:c.2761_2763dup	ENSP00000497804.1:p.Glu921_Asn922insGlu
ENST00000648725.1:c.3310_3312dup	ENSP00000497841.1:p.Glu1104_Asn1105insGlu
ENST00000648793.1:n.3788_3790dup
ENST00000648892.1:c.2434_2436dup	ENSP00000497048.1:p.Glu812_Asn813insGlu
ENST00000649006.1:c.2434_2436dup	ENSP00000498139.1:p.Glu812_Asn813insGlu
ENST00000649305.1:n.1625_1627dup
ENST00000649375.1:c.2761_2763dup	ENSP00000498141.1:p.Glu921_Asn922insGlu
ENST00000649463.1:c.3310_3312dup	ENSP00000497166.1:p.Glu1104_Asn1105insGlu
ENST00000650232.1:c.2245_2247dup	ENSP00000497570.1:p.Glu749_Asn750insGlu
ENST00000650610.1:n.2355_2357dup
ENST00000287239.8:c.3310_3312dup	ENSP00000287239.4:p.Glu1104_Asn1105insGlu
ENST00000372711.1:c.2761_2763dup	ENSP00000361796.1:p.Glu921_Asn922insGlu
ENST00000372714.5:c.2434_2436dup	ENSP00000361799.1:p.Glu812_Asn813insGlu
ENST00000372724.5:c.2434_2436dup	ENSP00000361809.1:p.Glu812_Asn813insGlu
ENST00000372725.5:c.2434_2436dup	ENSP00000361810.1:p.Glu812_Asn813insGlu
ENST00000490365.1:n.5263_5265dup
NM_001256468.1:c.2761_2763dup	NP_001243397.1:p.Glu921_Asn922insGlu
NM_001256469.1:c.2434_2436dup	NP_001243398.1:p.Glu812_Asn813insGlu
NM_012330.3:c.3310_3312dup	NP_036462.2:p.Glu1104_Asn1105insGlu
XM_005269664.2:c.3310_3312dup	XP_005269721.1:p.Glu1104_Asn1105insGlu
XM_017016000.2:c.3310_3312dup	XP_016871489.1:p.Glu1104_Asn1105insGlu
XM_017016002.1:c.3310_3312dup	XP_016871491.1:p.Glu1104_Asn1105insGlu
XM_017016003.1:c.3310_3312dup	XP_016871492.1:p.Glu1104_Asn1105insGlu
XM_017016004.2:c.3148_3150dup	XP_016871493.1:p.Glu1050_Asn1051insGlu
XM_017016005.2:c.2761_2763dup	XP_016871494.1:p.Glu921_Asn922insGlu
XM_017016006.2:c.2434_2436dup	XP_016871495.1:p.Glu812_Asn813insGlu
XM_017016008.2:c.2434_2436dup	XP_016871497.1:p.Glu812_Asn813insGlu
XM_017016009.1:c.2272_2274dup	XP_016871498.1:p.Glu758_Asn759insGlu
NM_012330.4:c.3310_3312dup MANE Select	NP_036462.2:p.Glu1104_Asn1105insGlu
NM_001370132.1:c.2272_2274dup	NP_001357061.1:p.Glu758_Asn759insGlu
NM_001370133.1:c.1621_1623dup	NP_001357062.1:p.Glu541_Asn542insGlu
NM_001370134.1:c.1225_1227dup	NP_001357063.1:p.Glu409_Asn410insGlu
NM_001370135.1:c.967_969dup	NP_001357064.1:p.Glu323_Asn324insGlu
NM_001370136.1:c.3310_3312dup	NP_001357065.1:p.Glu1104_Asn1105insGlu
NM_001370137.1:c.3310_3312dup	NP_001357066.1:p.Glu1104_Asn1105insGlu
NM_001370138.1:c.2761_2763dup	NP_001357067.1:p.Glu921_Asn922insGlu
NM_001370139.1:c.2434_2436dup	NP_001357068.1:p.Glu812_Asn813insGlu
NM_001370140.1:c.2434_2436dup	NP_001357069.1:p.Glu812_Asn813insGlu
NM_001370141.1:c.2434_2436dup	NP_001357070.1:p.Glu812_Asn813insGlu
NM_001370142.1:c.2434_2436dup	NP_001357071.1:p.Glu812_Asn813insGlu
NM_001370143.1:c.2245_2247dup	NP_001357072.1:p.Glu749_Asn750insGlu
NM_001370144.1:c.2245_2247dup	NP_001357073.1:p.Glu749_Asn750insGlu
NM_001256468.2:c.2761_2763dup	NP_001243397.1:p.Glu921_Asn922insGlu
NM_001256469.2:c.2434_2436dup	NP_001243398.1:p.Glu812_Asn813insGlu