Canonical Allele Identifier: CA2793815218
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480239_118480240insACA , CM000673.2:g.118480239_118480240insACA GRCh38
NC_000011.9:g.118350954_118350955insACA , CM000673.1:g.118350954_118350955insACA GRCh37
NC_000011.8:g.117856164_117856165insACA NCBI36
NG_027813.1:g.48750_48751insACA , LRG_613:g.48750_48751insACA

Transcript Alleles

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