Canonical Allele Identifier: CA2687076945

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933193-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933197del , CM000670.2:g.41933197del	GRCh38
NC_000008.10:g.41790715del , CM000670.1:g.41790715del	GRCh37
NC_000008.9:g.41909872del	NCBI36
NG_042093.1:g.123833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5026del MANE Select	ENSP00000265713.2:p.Gln1676SerfsTer?
ENST00000396930.4:c.5026del	ENSP00000380136.3:p.Gln1676SerfsTer?
ENST00000406337.6:c.5032del	ENSP00000385888.2:p.Gln1678SerfsTer?
ENST00000648335.1:c.5026del	ENSP00000497086.1:p.Gln1676SerfsTer?
ENST00000649817.1:c.3707del
ENST00000265713.6:c.5026del	ENSP00000265713.2:p.Gln1676SerfsTer?
ENST00000396930.3:c.5026del	ENSP00000380136.3:p.Gln1676SerfsTer?
ENST00000406337.5:c.5026del	ENSP00000385888.1:p.Gln1676SerfsTer?
NM_001099412.1:c.5026del	NP_001092882.1:p.Gln1676SerfsTer?
NM_001099413.1:c.5026del	NP_001092883.1:p.Gln1676SerfsTer?
NM_006766.3:c.5026del	NP_006757.2:p.Gln1676SerfsTer?
NM_006766.4:c.5026del	NP_006757.2:p.Gln1676SerfsTer?
XM_011544656.1:c.5158del	XP_011542958.1:p.Gln1720SerfsTer?
XM_011544657.1:c.5158del	XP_011542959.1:p.Gln1720SerfsTer?
XM_011544658.1:c.5158del	XP_011542960.1:p.Gln1720SerfsTer?
XM_011544659.1:c.5137del	XP_011542961.1:p.Gln1713SerfsTer?
XM_011544660.1:c.5044del	XP_011542962.1:p.Gln1682SerfsTer?
XM_011544656.2:c.5158del	XP_011542958.1:p.Gln1720SerfsTer?
XM_011544657.3:c.5158del	XP_011542959.1:p.Gln1720SerfsTer?
XM_011544658.3:c.5158del	XP_011542960.1:p.Gln1720SerfsTer?
XM_011544659.2:c.5137del	XP_011542961.1:p.Gln1713SerfsTer?
XM_017013863.1:c.5026del	XP_016869352.1:p.Gln1676SerfsTer?
XM_017013864.2:c.5026del	XP_016869353.1:p.Gln1676SerfsTer?
XM_024447285.1:c.3598del	XP_024303053.1:p.Gln1200SerfsTer?
NM_006766.5:c.5026del MANE Select	NP_006757.2:p.Gln1676SerfsTer?