Canonical Allele Identifier: CA2687076941
Gene: KAT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933175_41933237del , CM000670.2:g.41933175_41933237del GRCh38
NC_000008.10:g.41790693_41790755del , CM000670.1:g.41790693_41790755del GRCh37
NC_000008.9:g.41909850_41909912del NCBI36
NG_042093.1:g.123795_123857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4988_5050del MANE Select ENSP00000265713.2:p.Pro1663_Pro1683del
ENST00000396930.4:c.4988_5050del ENSP00000380136.3:p.Pro1663_Pro1683del
ENST00000406337.6:c.4994_5056del ENSP00000385888.2:p.Pro1665_Pro1685del
ENST00000649817.1:c.3669_3731del
ENST00000265713.6:c.4988_5050del ENSP00000265713.2:p.Pro1663_Pro1683del
ENST00000396930.3:c.4988_5050del ENSP00000380136.3:p.Pro1663_Pro1683del
ENST00000406337.5:c.4988_5050del ENSP00000385888.1:p.Pro1663_Pro1683del
NM_001099412.1:c.4988_5050del NP_001092882.1:p.Pro1663_Pro1683del
NM_001099413.1:c.4988_5050del NP_001092883.1:p.Pro1663_Pro1683del
NM_006766.3:c.4988_5050del NP_006757.2:p.Pro1663_Pro1683del
NM_006766.4:c.4988_5050del NP_006757.2:p.Pro1663_Pro1683del
XM_011544656.1:c.5120_5182del XP_011542958.1:p.Pro1707_Pro1727del
XM_011544657.1:c.5120_5182del XP_011542959.1:p.Pro1707_Pro1727del
XM_011544658.1:c.5120_5182del XP_011542960.1:p.Pro1707_Pro1727del
XM_011544659.1:c.5099_5161del XP_011542961.1:p.Pro1700_Pro1720del
XM_011544660.1:c.5006_5068del XP_011542962.1:p.Pro1669_Pro1689del
XM_011544656.2:c.5120_5182del XP_011542958.1:p.Pro1707_Pro1727del
XM_011544657.3:c.5120_5182del XP_011542959.1:p.Pro1707_Pro1727del
XM_011544658.3:c.5120_5182del XP_011542960.1:p.Pro1707_Pro1727del
XM_011544659.2:c.5099_5161del XP_011542961.1:p.Pro1700_Pro1720del
XM_017013863.1:c.4988_5050del XP_016869352.1:p.Pro1663_Pro1683del
XM_017013864.2:c.4988_5050del XP_016869353.1:p.Pro1663_Pro1683del
XM_024447285.1:c.3560_3622del XP_024303053.1:p.Pro1187_Pro1207del
NM_006766.5:c.4988_5050del MANE Select NP_006757.2:p.Pro1663_Pro1683del