Canonical Allele Identifier: CA1779195841
Gene: KAT6A HGNC NCBI

Linked Data

dbSNP Id: rs1821657594

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933241_41933261del , CM000670.2:g.41933241_41933261del GRCh38
NC_000008.10:g.41790759_41790779del , CM000670.1:g.41790759_41790779del GRCh37
NC_000008.9:g.41909916_41909936del NCBI36
NG_042093.1:g.123766_123786del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4959_4979del MANE Select ENSP00000265713.2:p.Pro1654_Gln1660del
ENST00000396930.4:c.4959_4979del ENSP00000380136.3:p.Pro1654_Gln1660del
ENST00000406337.6:c.4965_4985del ENSP00000385888.2:p.Pro1656_Gln1662del
ENST00000648335.1:c.4959_4979del ENSP00000497086.1:p.Pro1654_Gln1660del
ENST00000649817.1:c.3640_3660del
ENST00000265713.6:c.4959_4979del ENSP00000265713.2:p.Pro1654_Gln1660del
ENST00000396930.3:c.4959_4979del ENSP00000380136.3:p.Pro1654_Gln1660del
ENST00000406337.5:c.4959_4979del ENSP00000385888.1:p.Pro1654_Gln1660del
NM_001099412.1:c.4959_4979del NP_001092882.1:p.Pro1654_Gln1660del
NM_001099413.1:c.4959_4979del NP_001092883.1:p.Pro1654_Gln1660del
NM_006766.3:c.4959_4979del NP_006757.2:p.Pro1654_Gln1660del
NM_006766.4:c.4959_4979del NP_006757.2:p.Pro1654_Gln1660del
XM_011544656.1:c.5091_5111del XP_011542958.1:p.Pro1698_Gln1704del
XM_011544657.1:c.5091_5111del XP_011542959.1:p.Pro1698_Gln1704del
XM_011544658.1:c.5091_5111del XP_011542960.1:p.Pro1698_Gln1704del
XM_011544659.1:c.5070_5090del XP_011542961.1:p.Pro1691_Gln1697del
XM_011544660.1:c.4977_4997del XP_011542962.1:p.Pro1660_Gln1666del
XM_011544656.2:c.5091_5111del XP_011542958.1:p.Pro1698_Gln1704del
XM_011544657.3:c.5091_5111del XP_011542959.1:p.Pro1698_Gln1704del
XM_011544658.3:c.5091_5111del XP_011542960.1:p.Pro1698_Gln1704del
XM_011544659.2:c.5070_5090del XP_011542961.1:p.Pro1691_Gln1697del
XM_017013863.1:c.4959_4979del XP_016869352.1:p.Pro1654_Gln1660del
XM_017013864.2:c.4959_4979del XP_016869353.1:p.Pro1654_Gln1660del
XM_024447285.1:c.3531_3551del XP_024303053.1:p.Pro1178_Gln1184del
NM_006766.5:c.4959_4979del MANE Select NP_006757.2:p.Pro1654_Gln1660del