Canonical Allele Identifier: CA2499220781
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118474024del , CM000673.2:g.118474024del GRCh38
NC_000011.9:g.118344739del , CM000673.1:g.118344739del GRCh37
NC_000011.8:g.117849949del NCBI36
NG_027813.1:g.42535del , LRG_613:g.42535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.2964del ENSP00000432391.3:p.Val989SerfsTer7
ENST00000710560.1:c.2964del ENSP00000518343.1:p.Val989SerfsTer7
ENST00000527869.7:c.602-155del ENSP00000432652.3:n.602-155del
ENST00000533790.3:c.503-155del ENSP00000436700.3:n.503-155del
ENST00000649690.2:c.827-155del ENSP00000497372.2:n.827-155del
ENST00000691053.1:c.2865del ENSP00000509168.1:p.Val956SerfsTer7
ENST00000389506.10:c.2865del ENSP00000374157.5:p.Val956SerfsTer7
ENST00000533790.2:c.272-155del ENSP00000436700.2:n.272-155del
ENST00000534358.8:c.2865del MANE Select ENSP00000436786.2:p.Val956SerfsTer7
ENST00000648261.1:c.1635del ENSP00000498126.1:p.Val546SerfsTer7
ENST00000649690.1:c.413-155del ENSP00000497372.1:n.413-155del
ENST00000649699.1:c.2865del ENSP00000496927.1:p.Val956SerfsTer7
ENST00000389506.9:c.2865del ENSP00000374157.5:p.Val956SerfsTer7
ENST00000527869.6:c.353-155del ENSP00000432652.2:n.353-155del
ENST00000531904.6:c.2964del ENSP00000432391.2:p.Val989SerfsTer7
ENST00000533790.1:c.254-155del ENSP00000436700.1:n.254-155del
ENST00000534358.5:c.2865del ENSP00000436786.1:p.Val956SerfsTer7
NM_001197104.1:c.2865del , LRG_613t1:c.2865del NP_001184033.1:p.Val956SerfsTer7
NM_005933.3:c.2865del NP_005924.2:p.Val956SerfsTer7
XM_006718839.2:c.503-155del XP_006718902.2:n.503-155del
XM_011542829.1:c.2964del XP_011541131.1:p.Val989SerfsTer7
XM_011542830.1:c.2964del XP_011541132.1:p.Val989SerfsTer7
XM_011542831.1:c.2964del XP_011541133.1:p.Val989SerfsTer7
XM_011542832.1:c.926-155del XP_011541134.1:n.926-155del
XM_011542833.1:c.602-155del XP_011541135.1:n.602-155del
XM_006718839.3:c.503-155del XP_006718902.2:n.503-155del
XM_011542829.2:c.2964del XP_011541131.1:p.Val989SerfsTer7
XM_011542830.2:c.2964del XP_011541132.1:p.Val989SerfsTer7
XM_011542831.2:c.2964del XP_011541133.1:p.Val989SerfsTer7
XM_011542833.2:c.602-155del XP_011541135.1:n.602-155del
NM_001197104.2:c.2865del MANE Select NP_001184033.1:p.Val956SerfsTer7
NM_005933.4:c.2865del NP_005924.2:p.Val956SerfsTer7