Canonical Allele Identifier: CA5564923

Gene: KAT6B DUSP29

Linked Data

• ClinVar Variation Id: 1984553
• ClinVar RCV Id: RCV002756847
• dbSNP Id: rs773216336
• ExAC: 10:76788503 TGAG / T
• gnomAD v2: 10-76788503-TGAG-T
• gnomAD v3: 10-75028745-TGAG-T
• gnomAD v4: 10-75028745-TGAG-T
• COSMIC: COSM1684217
• MyVariant Identifiers: chr10:g.76788504_76788506del (hg19) ; chr10:g.75028747_75028749del (hg38) ; chr10:g.75028746_75028748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75028753_75028755del , CM000672.2:g.75028753_75028755del	GRCh38
NC_000010.10:g.76788511_76788513del , CM000672.1:g.76788511_76788513del	GRCh37
NC_000010.9:g.76458517_76458519del	NCBI36
NG_032048.1:g.207341_207343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.3929_3931del (KAT6B) MANE Select	ENSP00000287239.4:p.Glu1310del
ENST00000372711.2:c.3380_3382del (KAT6B)	ENSP00000361796.1:p.Glu1127del
ENST00000372714.6:c.3053_3055del (KAT6B)	ENSP00000361799.1:p.Glu1018del
ENST00000372724.6:c.3380_3382del (KAT6B)	ENSP00000361809.2:p.Glu1127del
ENST00000372725.6:c.3053_3055del (KAT6B)	ENSP00000361810.1:p.Glu1018del
ENST00000648048.1:c.3929_3931del (KAT6B)	ENSP00000497325.1:p.Glu1310del
ENST00000648370.1:c.3380_3382del (KAT6B)	ENSP00000497804.1:p.Glu1127del
ENST00000648725.1:c.3929_3931del (KAT6B)	ENSP00000497841.1:p.Glu1310del
ENST00000648892.1:c.3053_3055del (KAT6B)	ENSP00000497048.1:p.Glu1018del
ENST00000649006.1:c.3053_3055del (KAT6B)	ENSP00000498139.1:p.Glu1018del
ENST00000649463.1:c.3929_3931del (KAT6B)	ENSP00000497166.1:p.Glu1310del
ENST00000650232.1:c.2864_2866del (KAT6B)	ENSP00000497570.1:p.Glu955del
ENST00000287239.8:c.3929_3931del (KAT6B)	ENSP00000287239.4:p.Glu1310del
ENST00000372711.1:c.3380_3382del (KAT6B)	ENSP00000361796.1:p.Glu1127del
ENST00000372714.5:c.3053_3055del (KAT6B)	ENSP00000361799.1:p.Glu1018del
ENST00000372724.5:c.3053_3055del (KAT6B)	ENSP00000361809.1:p.Glu1018del
ENST00000372725.5:c.3053_3055del (KAT6B)	ENSP00000361810.1:p.Glu1018del
NM_001256468.1:c.3380_3382del (KAT6B)	NP_001243397.1:p.Glu1127del
NM_001256469.1:c.3053_3055del (KAT6B)	NP_001243398.1:p.Glu1018del
NM_012330.3:c.3929_3931del (KAT6B)	NP_036462.2:p.Glu1310del
XM_005269664.2:c.3929_3931del (KAT6B)	XP_005269721.1:p.Glu1310del
XR_946064.1:n.577-2154_577-2152del
XM_011539747.2:c.*3622-2154_*3622-2152del (DUSP29)	XP_011538049.1:n.*3622-2154_*3622-2152del
XM_017016000.2:c.3929_3931del (KAT6B)	XP_016871489.1:p.Glu1310del
XM_017016002.1:c.3929_3931del (KAT6B)	XP_016871491.1:p.Glu1310del
XM_017016003.1:c.3929_3931del (KAT6B)	XP_016871492.1:p.Glu1310del
XM_017016004.2:c.3767_3769del (KAT6B)	XP_016871493.1:p.Glu1256del
XM_017016005.2:c.3380_3382del (KAT6B)	XP_016871494.1:p.Glu1127del
XM_017016006.2:c.3053_3055del (KAT6B)	XP_016871495.1:p.Glu1018del
XM_017016008.2:c.3053_3055del (KAT6B)	XP_016871497.1:p.Glu1018del
XM_017016009.1:c.2891_2893del (KAT6B)	XP_016871498.1:p.Glu964del
NM_012330.4:c.3929_3931del (KAT6B) MANE Select	NP_036462.2:p.Glu1310del
NM_001370132.1:c.2891_2893del (KAT6B)	NP_001357061.1:p.Glu964del
NM_001370133.1:c.2240_2242del (KAT6B)	NP_001357062.1:p.Glu747del
NM_001370134.1:c.1844_1846del (KAT6B)	NP_001357063.1:p.Glu615del
NM_001370135.1:c.1586_1588del (KAT6B)	NP_001357064.1:p.Glu529del
NM_001370136.1:c.3929_3931del (KAT6B)	NP_001357065.1:p.Glu1310del
NM_001370137.1:c.3929_3931del (KAT6B)	NP_001357066.1:p.Glu1310del
NM_001370138.1:c.3380_3382del (KAT6B)	NP_001357067.1:p.Glu1127del
NM_001370139.1:c.3053_3055del (KAT6B)	NP_001357068.1:p.Glu1018del
NM_001370140.1:c.3053_3055del (KAT6B)	NP_001357069.1:p.Glu1018del
NM_001370141.1:c.3053_3055del (KAT6B)	NP_001357070.1:p.Glu1018del
NM_001370142.1:c.3053_3055del (KAT6B)	NP_001357071.1:p.Glu1018del
NM_001370143.1:c.2864_2866del (KAT6B)	NP_001357072.1:p.Glu955del
NM_001370144.1:c.2864_2866del (KAT6B)	NP_001357073.1:p.Glu955del
NM_001256468.2:c.3380_3382del (KAT6B)	NP_001243397.1:p.Glu1127del
NM_001256469.2:c.3053_3055del (KAT6B)	NP_001243398.1:p.Glu1018del