Canonical Allele Identifier: CA2003510730
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118478223_118478224delinsAG , CM000673.2:g.118478223_118478224delinsAG GRCh38
NC_000011.9:g.118348938_118348939delinsAG , CM000673.1:g.118348938_118348939delinsAG GRCh37
NC_000011.8:g.117854148_117854149delinsAG NCBI36
NG_027813.1:g.46734_46735delinsAG , LRG_613:g.46734_46735delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.3668+22_3668+23delinsAG ENSP00000432391.3:n.3668+22_3668+23delinsAG
ENST00000710560.1:c.3668+22_3668+23delinsAG ENSP00000518343.1:n.3668+22_3668+23delinsAG
ENST00000527869.7:c.1151+22_1151+23delinsAG ENSP00000432652.3:n.1151+22_1151+23delinsAG
ENST00000533790.3:c.1052+22_1052+23delinsAG ENSP00000436700.3:n.1052+22_1052+23delinsAG
ENST00000649690.2:c.1376+22_1376+23delinsAG ENSP00000497372.2:n.1376+22_1376+23delinsAG
ENST00000685719.1:c.550+22_550+23delinsAG
ENST00000691053.1:c.3569+22_3569+23delinsAG ENSP00000509168.1:n.3569+22_3569+23delinsAG
ENST00000389506.10:c.3569+22_3569+23delinsAG ENSP00000374157.5:n.3569+22_3569+23delinsAG
ENST00000533790.2:c.821+22_821+23delinsAG ENSP00000436700.2:n.821+22_821+23delinsAG
ENST00000534358.8:c.3569+22_3569+23delinsAG MANE Select ENSP00000436786.2:n.3569+22_3569+23delinsAG
ENST00000648261.1:c.2339+22_2339+23delinsAG ENSP00000498126.1:n.2339+22_2339+23delinsAG
ENST00000649699.1:c.3569+22_3569+23delinsAG ENSP00000496927.1:n.3569+22_3569+23delinsAG
ENST00000389506.9:c.3569+22_3569+23delinsAG ENSP00000374157.5:n.3569+22_3569+23delinsAG
ENST00000531904.6:c.3668+22_3668+23delinsAG ENSP00000432391.2:n.3668+22_3668+23delinsAG
ENST00000534358.5:c.3569+22_3569+23delinsAG ENSP00000436786.1:n.3569+22_3569+23delinsAG
NM_001197104.1:c.3569+22_3569+23delinsAG , LRG_613t1:c.3569+22_3569+23delinsAG NP_001184033.1:n.3569+22_3569+23delinsAG
NM_005933.3:c.3569+22_3569+23delinsAG NP_005924.2:n.3569+22_3569+23delinsAG
XM_006718839.2:c.1052+22_1052+23delinsAG XP_006718902.2:n.1052+22_1052+23delinsAG
XM_011542829.1:c.3668+22_3668+23delinsAG XP_011541131.1:n.3668+22_3668+23delinsAG
XM_011542830.1:c.3668+22_3668+23delinsAG XP_011541132.1:n.3668+22_3668+23delinsAG
XM_011542831.1:c.3668+22_3668+23delinsAG XP_011541133.1:n.3668+22_3668+23delinsAG
XM_011542832.1:c.1475+22_1475+23delinsAG XP_011541134.1:n.1475+22_1475+23delinsAG
XM_011542833.1:c.1151+22_1151+23delinsAG XP_011541135.1:n.1151+22_1151+23delinsAG
XM_006718839.3:c.1052+22_1052+23delinsAG XP_006718902.2:n.1052+22_1052+23delinsAG
XM_011542829.2:c.3668+22_3668+23delinsAG XP_011541131.1:n.3668+22_3668+23delinsAG
XM_011542830.2:c.3668+22_3668+23delinsAG XP_011541132.1:n.3668+22_3668+23delinsAG
XM_011542831.2:c.3668+22_3668+23delinsAG XP_011541133.1:n.3668+22_3668+23delinsAG
XM_011542833.2:c.1151+22_1151+23delinsAG XP_011541135.1:n.1151+22_1151+23delinsAG
NM_001197104.2:c.3569+22_3569+23delinsAG MANE Select NP_001184033.1:n.3569+22_3569+23delinsAG
NM_005933.4:c.3569+22_3569+23delinsAG NP_005924.2:n.3569+22_3569+23delinsAG