Canonical Allele Identifier: CA2687076947

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933214-G-GCTGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933215_41933220dup , CM000670.2:g.41933215_41933220dup	GRCh38
NC_000008.10:g.41790733_41790738dup , CM000670.1:g.41790733_41790738dup	GRCh37
NC_000008.9:g.41909890_41909895dup	NCBI36
NG_042093.1:g.123807_123812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5000_5005dup MANE Select	ENSP00000265713.2:p.Pro1668_Ala1669insGluPro
ENST00000396930.4:c.5000_5005dup	ENSP00000380136.3:p.Pro1668_Ala1669insGluPro
ENST00000406337.6:c.5006_5011dup	ENSP00000385888.2:p.Pro1670_Ala1671insGluPro
ENST00000648335.1:c.5000_5005dup	ENSP00000497086.1:p.Pro1668_Ala1669insGluPro
ENST00000649817.1:c.3681_3686dup
ENST00000265713.6:c.5000_5005dup	ENSP00000265713.2:p.Pro1668_Ala1669insGluPro
ENST00000396930.3:c.5000_5005dup	ENSP00000380136.3:p.Pro1668_Ala1669insGluPro
ENST00000406337.5:c.5000_5005dup	ENSP00000385888.1:p.Pro1668_Ala1669insGluPro
NM_001099412.1:c.5000_5005dup	NP_001092882.1:p.Pro1668_Ala1669insGluPro
NM_001099413.1:c.5000_5005dup	NP_001092883.1:p.Pro1668_Ala1669insGluPro
NM_006766.3:c.5000_5005dup	NP_006757.2:p.Pro1668_Ala1669insGluPro
NM_006766.4:c.5000_5005dup	NP_006757.2:p.Pro1668_Ala1669insGluPro
XM_011544656.1:c.5132_5137dup	XP_011542958.1:p.Pro1712_Ala1713insGluPro
XM_011544657.1:c.5132_5137dup	XP_011542959.1:p.Pro1712_Ala1713insGluPro
XM_011544658.1:c.5132_5137dup	XP_011542960.1:p.Pro1712_Ala1713insGluPro
XM_011544659.1:c.5111_5116dup	XP_011542961.1:p.Pro1705_Ala1706insGluPro
XM_011544660.1:c.5018_5023dup	XP_011542962.1:p.Pro1674_Ala1675insGluPro
XM_011544656.2:c.5132_5137dup	XP_011542958.1:p.Pro1712_Ala1713insGluPro
XM_011544657.3:c.5132_5137dup	XP_011542959.1:p.Pro1712_Ala1713insGluPro
XM_011544658.3:c.5132_5137dup	XP_011542960.1:p.Pro1712_Ala1713insGluPro
XM_011544659.2:c.5111_5116dup	XP_011542961.1:p.Pro1705_Ala1706insGluPro
XM_017013863.1:c.5000_5005dup	XP_016869352.1:p.Pro1668_Ala1669insGluPro
XM_017013864.2:c.5000_5005dup	XP_016869353.1:p.Pro1668_Ala1669insGluPro
XM_024447285.1:c.3572_3577dup	XP_024303053.1:p.Pro1192_Ala1193insGluPro
NM_006766.5:c.5000_5005dup MANE Select	NP_006757.2:p.Pro1668_Ala1669insGluPro