Canonical Allele Identifier: CA581928332

Gene: KAT6A

Linked Data

• dbSNP Id: rs1564003556
• gnomAD v2: 8-41790750-G-GGCGGCGGCTGTGGCT
• gnomAD v4: 8-41933232-G-GGCGGCGGCTGTGGCT
• MyVariant Identifiers: chr8:g.41790750_41790751insGCGGCGGCTGTGGCT (hg19) ; chr8:g.41933232_41933233insGCGGCGGCTGTGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933235_41933249dup , CM000670.2:g.41933235_41933249dup	GRCh38
NC_000008.10:g.41790753_41790767dup , CM000670.1:g.41790753_41790767dup	GRCh37
NC_000008.9:g.41909910_41909924dup	NCBI36
NG_042093.1:g.123780_123794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4973_4987dup MANE Select	ENSP00000265713.2:p.Pro1662_Pro1663insGlnProGlnProPro
ENST00000396930.4:c.4973_4987dup	ENSP00000380136.3:p.Pro1662_Pro1663insGlnProGlnProPro
ENST00000406337.6:c.4979_4993dup	ENSP00000385888.2:p.Pro1664_Pro1665insGlnProGlnProPro
ENST00000648335.1:c.4973_4987dup	ENSP00000497086.1:p.Pro1662_Pro1663insGlnProGlnProPro
ENST00000649817.1:c.3654_3668dup
ENST00000265713.6:c.4973_4987dup	ENSP00000265713.2:p.Pro1662_Pro1663insGlnProGlnProPro
ENST00000396930.3:c.4973_4987dup	ENSP00000380136.3:p.Pro1662_Pro1663insGlnProGlnProPro
ENST00000406337.5:c.4973_4987dup	ENSP00000385888.1:p.Pro1662_Pro1663insGlnProGlnProPro
NM_001099412.1:c.4973_4987dup	NP_001092882.1:p.Pro1662_Pro1663insGlnProGlnProPro
NM_001099413.1:c.4973_4987dup	NP_001092883.1:p.Pro1662_Pro1663insGlnProGlnProPro
NM_006766.3:c.4973_4987dup	NP_006757.2:p.Pro1662_Pro1663insGlnProGlnProPro
NM_006766.4:c.4973_4987dup	NP_006757.2:p.Pro1662_Pro1663insGlnProGlnProPro
XM_011544656.1:c.5105_5119dup	XP_011542958.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544657.1:c.5105_5119dup	XP_011542959.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544658.1:c.5105_5119dup	XP_011542960.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544659.1:c.5084_5098dup	XP_011542961.1:p.Pro1699_Pro1700insGlnProGlnProPro
XM_011544660.1:c.4991_5005dup	XP_011542962.1:p.Pro1668_Pro1669insGlnProGlnProPro
XM_011544656.2:c.5105_5119dup	XP_011542958.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544657.3:c.5105_5119dup	XP_011542959.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544658.3:c.5105_5119dup	XP_011542960.1:p.Pro1706_Pro1707insGlnProGlnProPro
XM_011544659.2:c.5084_5098dup	XP_011542961.1:p.Pro1699_Pro1700insGlnProGlnProPro
XM_017013863.1:c.4973_4987dup	XP_016869352.1:p.Pro1662_Pro1663insGlnProGlnProPro
XM_017013864.2:c.4973_4987dup	XP_016869353.1:p.Pro1662_Pro1663insGlnProGlnProPro
XM_024447285.1:c.3545_3559dup	XP_024303053.1:p.Pro1186_Pro1187insGlnProGlnProPro
NM_006766.5:c.4973_4987dup MANE Select	NP_006757.2:p.Pro1662_Pro1663insGlnProGlnProPro