Canonical Allele Identifier: CA2003512189
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480408_118480409delinsGT , CM000673.2:g.118480408_118480409delinsGT GRCh38
NC_000011.9:g.118351123_118351124delinsGT , CM000673.1:g.118351123_118351124delinsGT GRCh37
NC_000011.8:g.117856333_117856334delinsGT NCBI36
NG_027813.1:g.48919_48920delinsGT , LRG_613:g.48919_48920delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.3733+170_3733+171delinsGT ENSP00000432391.3:n.3733+170_3733+171delinsGT
ENST00000710560.1:c.3733+170_3733+171delinsGT ENSP00000518343.1:n.3733+170_3733+171delinsGT
ENST00000527869.7:c.1216+170_1216+171delinsGT ENSP00000432652.3:n.1216+170_1216+171delinsGT
ENST00000533790.3:c.1117+170_1117+171delinsGT ENSP00000436700.3:n.1117+170_1117+171delinsGT
ENST00000649690.2:c.1441+170_1441+171delinsGT ENSP00000497372.2:n.1441+170_1441+171delinsGT
ENST00000685719.1:c.615+170_615+171delinsGT
ENST00000691053.1:c.3634+170_3634+171delinsGT ENSP00000509168.1:n.3634+170_3634+171delinsGT
ENST00000389506.10:c.3634+170_3634+171delinsGT ENSP00000374157.5:n.3634+170_3634+171delinsGT
ENST00000533790.2:c.886+170_886+171delinsGT ENSP00000436700.2:n.886+170_886+171delinsGT
ENST00000534358.8:c.3634+170_3634+171delinsGT MANE Select ENSP00000436786.2:n.3634+170_3634+171delinsGT
ENST00000648261.1:c.2404+170_2404+171delinsGT ENSP00000498126.1:n.2404+170_2404+171delinsGT
ENST00000649699.1:c.3634+170_3634+171delinsGT ENSP00000496927.1:n.3634+170_3634+171delinsGT
ENST00000389506.9:c.3634+170_3634+171delinsGT ENSP00000374157.5:n.3634+170_3634+171delinsGT
ENST00000531904.6:c.3733+170_3733+171delinsGT ENSP00000432391.2:n.3733+170_3733+171delinsGT
ENST00000534358.5:c.3634+170_3634+171delinsGT ENSP00000436786.1:n.3634+170_3634+171delinsGT
NM_001197104.1:c.3634+170_3634+171delinsGT , LRG_613t1:c.3634+170_3634+171delinsGT NP_001184033.1:n.3634+170_3634+171delinsGT
NM_005933.3:c.3634+170_3634+171delinsGT NP_005924.2:n.3634+170_3634+171delinsGT
XM_006718839.2:c.1117+170_1117+171delinsGT XP_006718902.2:n.1117+170_1117+171delinsGT
XM_011542829.1:c.3733+170_3733+171delinsGT XP_011541131.1:n.3733+170_3733+171delinsGT
XM_011542830.1:c.3733+170_3733+171delinsGT XP_011541132.1:n.3733+170_3733+171delinsGT
XM_011542831.1:c.3733+170_3733+171delinsGT XP_011541133.1:n.3733+170_3733+171delinsGT
XM_011542832.1:c.1540+170_1540+171delinsGT XP_011541134.1:n.1540+170_1540+171delinsGT
XM_011542833.1:c.1216+170_1216+171delinsGT XP_011541135.1:n.1216+170_1216+171delinsGT
XM_006718839.3:c.1117+170_1117+171delinsGT XP_006718902.2:n.1117+170_1117+171delinsGT
XM_011542829.2:c.3733+170_3733+171delinsGT XP_011541131.1:n.3733+170_3733+171delinsGT
XM_011542830.2:c.3733+170_3733+171delinsGT XP_011541132.1:n.3733+170_3733+171delinsGT
XM_011542831.2:c.3733+170_3733+171delinsGT XP_011541133.1:n.3733+170_3733+171delinsGT
XM_011542833.2:c.1216+170_1216+171delinsGT XP_011541135.1:n.1216+170_1216+171delinsGT
NM_001197104.2:c.3634+170_3634+171delinsGT MANE Select NP_001184033.1:n.3634+170_3634+171delinsGT
NM_005933.4:c.3634+170_3634+171delinsGT NP_005924.2:n.3634+170_3634+171delinsGT