Canonical Allele Identifier: CA658683564

Gene: KAT6B DUSP29

Linked Data

• ClinVar Variation Id: 488451
• ClinVar RCV Id: RCV000578421
• dbSNP Id: rs1554845810
• MyVariant Identifiers: chr10:g.76789043_76789046del (hg19) ; chr10:g.75029285_75029288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75029285_75029288del , CM000672.2:g.75029285_75029288del	GRCh38
NC_000010.10:g.76789043_76789046del , CM000672.1:g.76789043_76789046del	GRCh37
NC_000010.9:g.76459049_76459052del	NCBI36
NG_032048.1:g.207873_207876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.4461_4464del (KAT6B) MANE Select	ENSP00000287239.4:p.Glu1488ProfsTer?
ENST00000372711.2:c.3912_3915del (KAT6B)	ENSP00000361796.1:p.Glu1305ProfsTer?
ENST00000372714.6:c.3585_3588del (KAT6B)	ENSP00000361799.1:p.Glu1196ProfsTer?
ENST00000372724.6:c.3912_3915del (KAT6B)	ENSP00000361809.2:p.Glu1305ProfsTer?
ENST00000372725.6:c.3585_3588del (KAT6B)	ENSP00000361810.1:p.Glu1196ProfsTer?
ENST00000648725.1:c.4461_4464del (KAT6B)	ENSP00000497841.1:p.Glu1488ProfsTer?
ENST00000648892.1:c.3585_3588del (KAT6B)	ENSP00000497048.1:p.Glu1196ProfsTer?
ENST00000649006.1:c.3585_3588del (KAT6B)	ENSP00000498139.1:p.Glu1196ProfsTer?
ENST00000649463.1:c.4461_4464del (KAT6B)	ENSP00000497166.1:p.Glu1488ProfsTer?
ENST00000287239.8:c.4461_4464del (KAT6B)	ENSP00000287239.4:p.Glu1488ProfsTer?
ENST00000372711.1:c.3912_3915del (KAT6B)	ENSP00000361796.1:p.Glu1305ProfsTer?
ENST00000372714.5:c.3585_3588del (KAT6B)	ENSP00000361799.1:p.Glu1196ProfsTer?
ENST00000372724.5:c.3585_3588del (KAT6B)	ENSP00000361809.1:p.Glu1196ProfsTer?
ENST00000372725.5:c.3585_3588del (KAT6B)	ENSP00000361810.1:p.Glu1196ProfsTer?
NM_001256468.1:c.3912_3915del (KAT6B)	NP_001243397.1:p.Glu1305ProfsTer?
NM_001256469.1:c.3585_3588del (KAT6B)	NP_001243398.1:p.Glu1196ProfsTer?
NM_012330.3:c.4461_4464del (KAT6B)	NP_036462.2:p.Glu1488ProfsTer?
XM_005269664.2:c.4461_4464del (KAT6B)	XP_005269721.1:p.Glu1488ProfsTer?
XR_946064.1:n.577-2692_577-2689del
XM_011539747.2:c.*3622-2692_*3622-2689del (DUSP29)	XP_011538049.1:n.*3622-2692_*3622-2689del
XM_017016000.2:c.4461_4464del (KAT6B)	XP_016871489.1:p.Glu1488ProfsTer?
XM_017016002.1:c.4461_4464del (KAT6B)	XP_016871491.1:p.Glu1488ProfsTer?
XM_017016003.1:c.4461_4464del (KAT6B)	XP_016871492.1:p.Glu1488ProfsTer?
XM_017016004.2:c.4299_4302del (KAT6B)	XP_016871493.1:p.Glu1434ProfsTer?
XM_017016005.2:c.3912_3915del (KAT6B)	XP_016871494.1:p.Glu1305ProfsTer?
XM_017016006.2:c.3585_3588del (KAT6B)	XP_016871495.1:p.Glu1196ProfsTer?
XM_017016008.2:c.3585_3588del (KAT6B)	XP_016871497.1:p.Glu1196ProfsTer?
XM_017016009.1:c.3423_3426del (KAT6B)	XP_016871498.1:p.Glu1142ProfsTer?
NM_012330.4:c.4461_4464del (KAT6B) MANE Select	NP_036462.2:p.Glu1488ProfsTer?
NM_001370132.1:c.3423_3426del (KAT6B)	NP_001357061.1:p.Glu1142ProfsTer?
NM_001370133.1:c.2772_2775del (KAT6B)	NP_001357062.1:p.Glu925ProfsTer?
NM_001370134.1:c.2376_2379del (KAT6B)	NP_001357063.1:p.Glu793ProfsTer?
NM_001370135.1:c.2118_2121del (KAT6B)	NP_001357064.1:p.Glu707ProfsTer?
NM_001370136.1:c.4461_4464del (KAT6B)	NP_001357065.1:p.Glu1488ProfsTer?
NM_001370137.1:c.4461_4464del (KAT6B)	NP_001357066.1:p.Glu1488ProfsTer?
NM_001370138.1:c.3912_3915del (KAT6B)	NP_001357067.1:p.Glu1305ProfsTer?
NM_001370139.1:c.3585_3588del (KAT6B)	NP_001357068.1:p.Glu1196ProfsTer?
NM_001370140.1:c.3585_3588del (KAT6B)	NP_001357069.1:p.Glu1196ProfsTer?
NM_001370141.1:c.3585_3588del (KAT6B)	NP_001357070.1:p.Glu1196ProfsTer?
NM_001370142.1:c.3585_3588del (KAT6B)	NP_001357071.1:p.Glu1196ProfsTer?
NM_001370143.1:c.3396_3399del (KAT6B)	NP_001357072.1:p.Glu1133ProfsTer?
NM_001370144.1:c.3396_3399del (KAT6B)	NP_001357073.1:p.Glu1133ProfsTer?
NM_001256468.2:c.3912_3915del (KAT6B)	NP_001243397.1:p.Glu1305ProfsTer?
NM_001256469.2:c.3585_3588del (KAT6B)	NP_001243398.1:p.Glu1196ProfsTer?