Canonical Allele Identifier: CA2740098015
Community Standard Title: NM_001197104.2(KMT2A):c.9917_9918insCTGT (p.Gln3307CysfsTer22)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118505809_118505810insCTGT , CM000673.2:g.118505809_118505810insCTGT GRCh38
NC_000011.9:g.118376524_118376525insCTGT , CM000673.1:g.118376524_118376525insCTGT GRCh37
NC_000011.8:g.117881734_117881735insCTGT NCBI36
NG_027813.1:g.74320_74321insCTGT , LRG_613:g.74320_74321insCTGT

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.9917_9918insCTGT MANE Select NP_001184033.1:p.Gln3307CysfsTer22
ENST00000534358.8:c.9917_9918insCTGT MANE Select ENSP00000436786.2:p.Gln3307CysfsTer22
NM_001197104.1:c.9917_9918insCTGT , LRG_613t1:c.9917_9918insCTGT NP_001184033.1:p.Gln3307CysfsTer22
NM_005933.3:c.9908_9909insCTGT NP_005924.2:p.Gln3304CysfsTer22
NM_005933.4:c.9908_9909insCTGT NP_005924.2:p.Gln3304CysfsTer22
ENST00000389506.10:c.9908_9909insCTGT ENSP00000374157.5:p.Gln3304CysfsTer22
ENST00000389506.9:c.9908_9909insCTGT ENSP00000374157.5:p.Gln3304CysfsTer22
ENST00000531904.7:c.10016_10017insCTGT ENSP00000432391.3:p.Gln3340CysfsTer22
ENST00000534085.2:n.196_197insCTGT
ENST00000534358.5:c.9917_9918insCTGT ENSP00000436786.1:p.Gln3307CysfsTer22
ENST00000649699.1:c.9794_9795insCTGT ENSP00000496927.1:p.Gln3266CysfsTer22
ENST00000649878.2:c.3956_3957insCTGT ENSP00000497891.2:p.Gln1320CysfsTer22
ENST00000685397.1:c.3956_3957insCTGT ENSP00000509586.1:p.Gln1320CysfsTer22
ENST00000686370.1:c.3956_3957insCTGT ENSP00000509179.1:p.Gln1320CysfsTer22
ENST00000689424.1:c.4214_4215insCTGT ENSP00000509852.1:p.Gln1406CysfsTer22
ENST00000691053.1:c.9989_9990insCTGT ENSP00000509168.1:p.Gln3331CysfsTer22
ENST00000710560.1:c.10007_10008insCTGT ENSP00000518343.1:p.Gln3337CysfsTer22
XM_006718839.2:c.7400_7401insCTGT XP_006718902.2:p.Gln2468CysfsTer22
XM_006718839.3:c.7400_7401insCTGT XP_006718902.2:p.Gln2468CysfsTer22
XM_011542829.1:c.10016_10017insCTGT XP_011541131.1:p.Gln3340CysfsTer22
XM_011542829.2:c.10016_10017insCTGT XP_011541131.1:p.Gln3340CysfsTer22
XM_011542830.1:c.10013_10014insCTGT XP_011541132.1:p.Gln3339CysfsTer22
XM_011542830.2:c.10013_10014insCTGT XP_011541132.1:p.Gln3339CysfsTer22
XM_011542831.1:c.10007_10008insCTGT XP_011541133.1:p.Gln3337CysfsTer22
XM_011542831.2:c.10007_10008insCTGT XP_011541133.1:p.Gln3337CysfsTer22
XM_011542832.1:c.7823_7824insCTGT XP_011541134.1:p.Gln2609CysfsTer22
XM_011542833.1:c.7499_7500insCTGT XP_011541135.1:p.Gln2501CysfsTer22
XM_011542833.2:c.7499_7500insCTGT XP_011541135.1:p.Gln2501CysfsTer22