Canonical Allele Identifier: CA10654760

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 369686
• ClinVar RCV Id: RCV000408607
• dbSNP Id: rs1057516049
• MyVariant Identifiers: chr8:g.41791481_41791484del (hg19) ; chr8:g.41933963_41933966del (hg38)
• PubMed: PMID:26938784

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933965_41933968del , CM000670.2:g.41933965_41933968del	GRCh38
NC_000008.10:g.41791483_41791486del , CM000670.1:g.41791483_41791486del	GRCh37
NC_000008.9:g.41910640_41910643del	NCBI36
NG_042093.1:g.123061_123064del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4254_4257del MANE Select	ENSP00000265713.2:p.Glu1419TrpfsTer12
ENST00000396930.4:c.4254_4257del	ENSP00000380136.3:p.Glu1419TrpfsTer12
ENST00000406337.6:c.4260_4263del	ENSP00000385888.2:p.Glu1421TrpfsTer12
ENST00000648335.1:c.4254_4257del	ENSP00000497086.1:p.Glu1419TrpfsTer12
ENST00000649817.1:c.2935_2938del
ENST00000265713.6:c.4254_4257del	ENSP00000265713.2:p.Glu1419TrpfsTer12
ENST00000396930.3:c.4254_4257del	ENSP00000380136.3:p.Glu1419TrpfsTer12
ENST00000406337.5:c.4254_4257del	ENSP00000385888.1:p.Glu1419TrpfsTer12
NM_001099412.1:c.4254_4257del	NP_001092882.1:p.Glu1419TrpfsTer12
NM_001099413.1:c.4254_4257del	NP_001092883.1:p.Glu1419TrpfsTer12
NM_006766.3:c.4254_4257del	NP_006757.2:p.Glu1419TrpfsTer12
NM_006766.4:c.4254_4257del	NP_006757.2:p.Glu1419TrpfsTer12
XM_011544656.1:c.4386_4389del	XP_011542958.1:p.Glu1463TrpfsTer12
XM_011544657.1:c.4386_4389del	XP_011542959.1:p.Glu1463TrpfsTer12
XM_011544658.1:c.4386_4389del	XP_011542960.1:p.Glu1463TrpfsTer12
XM_011544659.1:c.4365_4368del	XP_011542961.1:p.Glu1456TrpfsTer12
XM_011544660.1:c.4272_4275del	XP_011542962.1:p.Glu1425TrpfsTer12
XM_011544656.2:c.4386_4389del	XP_011542958.1:p.Glu1463TrpfsTer12
XM_011544657.3:c.4386_4389del	XP_011542959.1:p.Glu1463TrpfsTer12
XM_011544658.3:c.4386_4389del	XP_011542960.1:p.Glu1463TrpfsTer12
XM_011544659.2:c.4365_4368del	XP_011542961.1:p.Glu1456TrpfsTer12
XM_017013863.1:c.4254_4257del	XP_016869352.1:p.Glu1419TrpfsTer12
XM_017013864.2:c.4254_4257del	XP_016869353.1:p.Glu1419TrpfsTer12
XM_024447285.1:c.2826_2829del	XP_024303053.1:p.Glu943TrpfsTer12
NM_006766.5:c.4254_4257del MANE Select	NP_006757.2:p.Glu1419TrpfsTer12