Canonical Allele Identifier: CA2003515709
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118472042_118472045del , CM000673.2:g.118472042_118472045del GRCh38
NC_000011.9:g.118342757_118342760del , CM000673.1:g.118342757_118342760del GRCh37
NC_000011.8:g.117847967_117847970del NCBI36
NG_027813.1:g.40553_40556del , LRG_613:g.40553_40556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.982_985del ENSP00000432391.3:p.Lys328GlyfsTer17
ENST00000710560.1:c.982_985del ENSP00000518343.1:p.Lys328GlyfsTer17
ENST00000527869.7:c.602-2137_602-2134del ENSP00000432652.3:n.602-2137_602-2134del
ENST00000533790.3:c.503-2137_503-2134del ENSP00000436700.3:n.503-2137_503-2134del
ENST00000649690.2:c.826+57_826+60del ENSP00000497372.2:n.826+57_826+60del
ENST00000691053.1:c.883_886del ENSP00000509168.1:p.Lys295GlyfsTer17
ENST00000389506.10:c.883_886del ENSP00000374157.5:p.Lys295GlyfsTer17
ENST00000533790.2:c.272-2137_272-2134del ENSP00000436700.2:n.272-2137_272-2134del
ENST00000534358.8:c.883_886del MANE Select ENSP00000436786.2:p.Lys295GlyfsTer17
ENST00000648261.1:c.-348_-345del ENSP00000498126.1:n.-348_-345del
ENST00000649690.1:c.412+57_412+60del ENSP00000497372.1:n.412+57_412+60del
ENST00000649699.1:c.883_886del ENSP00000496927.1:p.Lys295GlyfsTer17
ENST00000389506.9:c.883_886del ENSP00000374157.5:p.Lys295GlyfsTer17
ENST00000527869.6:c.353-2137_353-2134del ENSP00000432652.2:n.353-2137_353-2134del
ENST00000531904.6:c.982_985del ENSP00000432391.2:p.Lys328GlyfsTer17
ENST00000533790.1:c.254-2137_254-2134del ENSP00000436700.1:n.254-2137_254-2134del
ENST00000534358.5:c.883_886del ENSP00000436786.1:p.Lys295GlyfsTer17
NM_001197104.1:c.883_886del , LRG_613t1:c.883_886del NP_001184033.1:p.Lys295GlyfsTer17
NM_005933.3:c.883_886del NP_005924.2:p.Lys295GlyfsTer17
XM_006718839.2:c.503-2137_503-2134del XP_006718902.2:n.503-2137_503-2134del
XM_011542829.1:c.982_985del XP_011541131.1:p.Lys328GlyfsTer17
XM_011542830.1:c.982_985del XP_011541132.1:p.Lys328GlyfsTer17
XM_011542831.1:c.982_985del XP_011541133.1:p.Lys328GlyfsTer17
XM_011542832.1:c.925+57_925+60del XP_011541134.1:n.925+57_925+60del
XM_011542833.1:c.602-2137_602-2134del XP_011541135.1:n.602-2137_602-2134del
XM_006718839.3:c.503-2137_503-2134del XP_006718902.2:n.503-2137_503-2134del
XM_011542829.2:c.982_985del XP_011541131.1:p.Lys328GlyfsTer17
XM_011542830.2:c.982_985del XP_011541132.1:p.Lys328GlyfsTer17
XM_011542831.2:c.982_985del XP_011541133.1:p.Lys328GlyfsTer17
XM_011542833.2:c.602-2137_602-2134del XP_011541135.1:n.602-2137_602-2134del
NM_001197104.2:c.883_886del MANE Select NP_001184033.1:p.Lys295GlyfsTer17
NM_005933.4:c.883_886del NP_005924.2:p.Lys295GlyfsTer17