Canonical Allele Identifier: CA1779195796

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2975615
• ClinVar RCV Id: RCV003833701
• dbSNP Id: rs1821650151
• gnomAD v4: 8-41933172-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933177_41933179del , CM000670.2:g.41933177_41933179del	GRCh38
NC_000008.10:g.41790695_41790697del , CM000670.1:g.41790695_41790697del	GRCh37
NC_000008.9:g.41909852_41909854del	NCBI36
NG_042093.1:g.123852_123854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5045_5047del MANE Select	ENSP00000265713.2:p.Gln1682del
ENST00000396930.4:c.5045_5047del	ENSP00000380136.3:p.Gln1682del
ENST00000406337.6:c.5051_5053del	ENSP00000385888.2:p.Gln1684del
ENST00000649817.1:c.3726_3728del
ENST00000265713.6:c.5045_5047del	ENSP00000265713.2:p.Gln1682del
ENST00000396930.3:c.5045_5047del	ENSP00000380136.3:p.Gln1682del
ENST00000406337.5:c.5045_5047del	ENSP00000385888.1:p.Gln1682del
NM_001099412.1:c.5045_5047del	NP_001092882.1:p.Gln1682del
NM_001099413.1:c.5045_5047del	NP_001092883.1:p.Gln1682del
NM_006766.3:c.5045_5047del	NP_006757.2:p.Gln1682del
NM_006766.4:c.5045_5047del	NP_006757.2:p.Gln1682del
XM_011544656.1:c.5177_5179del	XP_011542958.1:p.Gln1726del
XM_011544657.1:c.5177_5179del	XP_011542959.1:p.Gln1726del
XM_011544658.1:c.5177_5179del	XP_011542960.1:p.Gln1726del
XM_011544659.1:c.5156_5158del	XP_011542961.1:p.Gln1719del
XM_011544660.1:c.5063_5065del	XP_011542962.1:p.Gln1688del
XM_011544656.2:c.5177_5179del	XP_011542958.1:p.Gln1726del
XM_011544657.3:c.5177_5179del	XP_011542959.1:p.Gln1726del
XM_011544658.3:c.5177_5179del	XP_011542960.1:p.Gln1726del
XM_011544659.2:c.5156_5158del	XP_011542961.1:p.Gln1719del
XM_017013863.1:c.5045_5047del	XP_016869352.1:p.Gln1682del
XM_017013864.2:c.5045_5047del	XP_016869353.1:p.Gln1682del
XM_024447285.1:c.3617_3619del	XP_024303053.1:p.Gln1206del
NM_006766.5:c.5045_5047del MANE Select	NP_006757.2:p.Gln1682del