Canonical Allele Identifier: CA1779195827
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933228_41933234delinsTGGCGGC , CM000670.2:g.41933228_41933234delinsTGGCGGC GRCh38
NC_000008.10:g.41790746_41790752delinsTGGCGGC , CM000670.1:g.41790746_41790752delinsTGGCGGC GRCh37
NC_000008.9:g.41909903_41909909delinsTGGCGGC NCBI36
NG_042093.1:g.123793_123799delinsGCCGCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4986_4992delinsGCCGCCA MANE Select ENSP00000265713.2:p.Pro1662=
ENST00000396930.4:c.4986_4992delinsGCCGCCA ENSP00000380136.3:p.Pro1662=
ENST00000406337.6:c.4992_4998delinsGCCGCCA ENSP00000385888.2:p.Pro1664=
ENST00000648335.1:c.4986_4992delinsGCCGCCA ENSP00000497086.1:p.Pro1662=
ENST00000649817.1:c.3667_3673delinsGCCGCCA
ENST00000265713.6:c.4986_4992delinsGCCGCCA ENSP00000265713.2:p.Pro1662=
ENST00000396930.3:c.4986_4992delinsGCCGCCA ENSP00000380136.3:p.Pro1662=
ENST00000406337.5:c.4986_4992delinsGCCGCCA ENSP00000385888.1:p.Pro1662=
NM_001099412.1:c.4986_4992delinsGCCGCCA NP_001092882.1:p.Pro1662=
NM_001099413.1:c.4986_4992delinsGCCGCCA NP_001092883.1:p.Pro1662=
NM_006766.3:c.4986_4992delinsGCCGCCA NP_006757.2:p.Pro1662=
NM_006766.4:c.4986_4992delinsGCCGCCA NP_006757.2:p.Pro1662=
XM_011544656.1:c.5118_5124delinsGCCGCCA XP_011542958.1:p.Pro1706=
XM_011544657.1:c.5118_5124delinsGCCGCCA XP_011542959.1:p.Pro1706=
XM_011544658.1:c.5118_5124delinsGCCGCCA XP_011542960.1:p.Pro1706=
XM_011544659.1:c.5097_5103delinsGCCGCCA XP_011542961.1:p.Pro1699=
XM_011544660.1:c.5004_5010delinsGCCGCCA XP_011542962.1:p.Pro1668=
XM_011544656.2:c.5118_5124delinsGCCGCCA XP_011542958.1:p.Pro1706=
XM_011544657.3:c.5118_5124delinsGCCGCCA XP_011542959.1:p.Pro1706=
XM_011544658.3:c.5118_5124delinsGCCGCCA XP_011542960.1:p.Pro1706=
XM_011544659.2:c.5097_5103delinsGCCGCCA XP_011542961.1:p.Pro1699=
XM_017013863.1:c.4986_4992delinsGCCGCCA XP_016869352.1:p.Pro1662=
XM_017013864.2:c.4986_4992delinsGCCGCCA XP_016869353.1:p.Pro1662=
XM_024447285.1:c.3558_3564delinsGCCGCCA XP_024303053.1:p.Pro1186=
NM_006766.5:c.4986_4992delinsGCCGCCA MANE Select NP_006757.2:p.Pro1662=