Canonical Allele Identifier: CA2687076950

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933228-T-TGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933235_41933240dup , CM000670.2:g.41933235_41933240dup	GRCh38
NC_000008.10:g.41790753_41790758dup , CM000670.1:g.41790753_41790758dup	GRCh37
NC_000008.9:g.41909910_41909915dup	NCBI36
NG_042093.1:g.123793_123798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4986_4991dup MANE Select	ENSP00000265713.2:p.Pro1664_Gln1665insProPro
ENST00000396930.4:c.4986_4991dup	ENSP00000380136.3:p.Pro1664_Gln1665insProPro
ENST00000406337.6:c.4992_4997dup	ENSP00000385888.2:p.Pro1666_Gln1667insProPro
ENST00000648335.1:c.4986_4991dup	ENSP00000497086.1:p.Pro1664_Gln1665insProPro
ENST00000649817.1:c.3667_3672dup
ENST00000265713.6:c.4986_4991dup	ENSP00000265713.2:p.Pro1664_Gln1665insProPro
ENST00000396930.3:c.4986_4991dup	ENSP00000380136.3:p.Pro1664_Gln1665insProPro
ENST00000406337.5:c.4986_4991dup	ENSP00000385888.1:p.Pro1664_Gln1665insProPro
NM_001099412.1:c.4986_4991dup	NP_001092882.1:p.Pro1664_Gln1665insProPro
NM_001099413.1:c.4986_4991dup	NP_001092883.1:p.Pro1664_Gln1665insProPro
NM_006766.3:c.4986_4991dup	NP_006757.2:p.Pro1664_Gln1665insProPro
NM_006766.4:c.4986_4991dup	NP_006757.2:p.Pro1664_Gln1665insProPro
XM_011544656.1:c.5118_5123dup	XP_011542958.1:p.Pro1708_Gln1709insProPro
XM_011544657.1:c.5118_5123dup	XP_011542959.1:p.Pro1708_Gln1709insProPro
XM_011544658.1:c.5118_5123dup	XP_011542960.1:p.Pro1708_Gln1709insProPro
XM_011544659.1:c.5097_5102dup	XP_011542961.1:p.Pro1701_Gln1702insProPro
XM_011544660.1:c.5004_5009dup	XP_011542962.1:p.Pro1670_Gln1671insProPro
XM_011544656.2:c.5118_5123dup	XP_011542958.1:p.Pro1708_Gln1709insProPro
XM_011544657.3:c.5118_5123dup	XP_011542959.1:p.Pro1708_Gln1709insProPro
XM_011544658.3:c.5118_5123dup	XP_011542960.1:p.Pro1708_Gln1709insProPro
XM_011544659.2:c.5097_5102dup	XP_011542961.1:p.Pro1701_Gln1702insProPro
XM_017013863.1:c.4986_4991dup	XP_016869352.1:p.Pro1664_Gln1665insProPro
XM_017013864.2:c.4986_4991dup	XP_016869353.1:p.Pro1664_Gln1665insProPro
XM_024447285.1:c.3558_3563dup	XP_024303053.1:p.Pro1188_Gln1189insProPro
NM_006766.5:c.4986_4991dup MANE Select	NP_006757.2:p.Pro1664_Gln1665insProPro