Canonical Allele Identifier: CA16042642
Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 373672
ClinVar RCV Id: RCV000413990
dbSNP Id: rs1057518543
MyVariant Identifiers: chr8:g.41791528dupC (hg19) chr8:g.41791527_41791528insC (hg19) chr8:g.41934010dupC (hg38) chr8:g.41934009_41934010insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41934011dup , CM000670.2:g.41934011dup GRCh38
NC_000008.10:g.41791529dup , CM000670.1:g.41791529dup GRCh37
NC_000008.9:g.41910686dup NCBI36
NG_042093.1:g.123017dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265713.8:c.4210dup MANE Select ENSP00000265713.2:p.Glu1404GlyfsTer15
ENST00000396930.4:c.4210dup ENSP00000380136.3:p.Glu1404GlyfsTer15
ENST00000406337.6:c.4216dup ENSP00000385888.2:p.Glu1406GlyfsTer15
ENST00000648335.1:c.4210dup ENSP00000497086.1:p.Glu1404GlyfsTer15
ENST00000649817.1:c.2891dup
ENST00000265713.6:c.4210dup ENSP00000265713.2:p.Glu1404GlyfsTer15
ENST00000396930.3:c.4210dup ENSP00000380136.3:p.Glu1404GlyfsTer15
ENST00000406337.5:c.4210dup ENSP00000385888.1:p.Glu1404GlyfsTer15
NM_001099412.1:c.4210dup NP_001092882.1:p.Glu1404GlyfsTer15
NM_001099413.1:c.4210dup NP_001092883.1:p.Glu1404GlyfsTer15
NM_006766.3:c.4210dup NP_006757.2:p.Glu1404GlyfsTer15
NM_006766.4:c.4210dup NP_006757.2:p.Glu1404GlyfsTer15
XM_011544656.1:c.4342dup XP_011542958.1:p.Glu1448GlyfsTer15
XM_011544657.1:c.4342dup XP_011542959.1:p.Glu1448GlyfsTer15
XM_011544658.1:c.4342dup XP_011542960.1:p.Glu1448GlyfsTer15
XM_011544659.1:c.4321dup XP_011542961.1:p.Glu1441GlyfsTer15
XM_011544660.1:c.4228dup XP_011542962.1:p.Glu1410GlyfsTer15
XM_011544656.2:c.4342dup XP_011542958.1:p.Glu1448GlyfsTer15
XM_011544657.3:c.4342dup XP_011542959.1:p.Glu1448GlyfsTer15
XM_011544658.3:c.4342dup XP_011542960.1:p.Glu1448GlyfsTer15
XM_011544659.2:c.4321dup XP_011542961.1:p.Glu1441GlyfsTer15
XM_017013863.1:c.4210dup XP_016869352.1:p.Glu1404GlyfsTer15
XM_017013864.2:c.4210dup XP_016869353.1:p.Glu1404GlyfsTer15
XM_024447285.1:c.2782dup XP_024303053.1:p.Glu928GlyfsTer15
NM_006766.5:c.4210dup MANE Select NP_006757.2:p.Glu1404GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'