Canonical Allele Identifier: CA2967488996
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933255_41933257del , CM000670.2:g.41933255_41933257del GRCh38
NC_000008.10:g.41790773_41790775del , CM000670.1:g.41790773_41790775del GRCh37
NC_000008.9:g.41909930_41909932del NCBI36
NG_042093.1:g.123772_123774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4965_4967del MANE Select ENSP00000265713.2:p.Pro1656del
ENST00000396930.4:c.4965_4967del ENSP00000380136.3:p.Pro1656del
ENST00000406337.6:c.4971_4973del ENSP00000385888.2:p.Pro1658del
ENST00000648335.1:c.4965_4967del ENSP00000497086.1:p.Pro1656del
ENST00000649817.1:c.3646_3648del
ENST00000265713.6:c.4965_4967del ENSP00000265713.2:p.Pro1656del
ENST00000396930.3:c.4965_4967del ENSP00000380136.3:p.Pro1656del
ENST00000406337.5:c.4965_4967del ENSP00000385888.1:p.Pro1656del
NM_001099412.1:c.4965_4967del NP_001092882.1:p.Pro1656del
NM_001099413.1:c.4965_4967del NP_001092883.1:p.Pro1656del
NM_006766.3:c.4965_4967del NP_006757.2:p.Pro1656del
NM_006766.4:c.4965_4967del NP_006757.2:p.Pro1656del
XM_011544656.1:c.5097_5099del XP_011542958.1:p.Pro1700del
XM_011544657.1:c.5097_5099del XP_011542959.1:p.Pro1700del
XM_011544658.1:c.5097_5099del XP_011542960.1:p.Pro1700del
XM_011544659.1:c.5076_5078del XP_011542961.1:p.Pro1693del
XM_011544660.1:c.4983_4985del XP_011542962.1:p.Pro1662del
XM_011544656.2:c.5097_5099del XP_011542958.1:p.Pro1700del
XM_011544657.3:c.5097_5099del XP_011542959.1:p.Pro1700del
XM_011544658.3:c.5097_5099del XP_011542960.1:p.Pro1700del
XM_011544659.2:c.5076_5078del XP_011542961.1:p.Pro1693del
XM_017013863.1:c.4965_4967del XP_016869352.1:p.Pro1656del
XM_017013864.2:c.4965_4967del XP_016869353.1:p.Pro1656del
XM_024447285.1:c.3537_3539del XP_024303053.1:p.Pro1180del
NM_006766.5:c.4965_4967del MANE Select NP_006757.2:p.Pro1656del