Canonical Allele Identifier: CA2695197636
Gene: KAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31117747_31117763del , CM000678.2:g.31117747_31117763del GRCh38
NC_000016.9:g.31129068_31129084del , CM000678.1:g.31129068_31129084del GRCh37
NC_000016.8:g.31036569_31036585del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219797.9:c.66_82del MANE Select ENSP00000219797.3:p.Pro23CysfsTer4
ENST00000652764.1:c.66_82del ENSP00000498566.1:p.Pro23CysfsTer4
ENST00000219797.8:c.66_82del ENSP00000219797.3:p.Pro23CysfsTer4
ENST00000448516.6:c.66_82del ENSP00000406037.2:p.Pro23CysfsTer4
ENST00000539683.2:n.51_67del
ENST00000543774.6:c.66_82del ENSP00000456933.2:p.Pro23CysfsTer4
NM_032188.2:c.66_82del NP_115564.2:p.Pro23CysfsTer4
NM_182958.2:c.66_82del NP_892003.2:p.Pro23CysfsTer4
NM_032188.3:c.66_82del MANE Select NP_115564.2:p.Pro23CysfsTer4
NM_182958.3:c.66_82del NP_892003.2:p.Pro23CysfsTer4
NM_182958.4:c.66_82del NP_892003.2:p.Pro23CysfsTer4