Canonical Allele Identifier: CA2516500221
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503138_118503139insAGTGACTG , CM000673.2:g.118503138_118503139insAGTGACTG GRCh38
NC_000011.9:g.118373853_118373854insAGTGACTG , CM000673.1:g.118373853_118373854insAGTGACTG GRCh37
NC_000011.8:g.117879063_117879064insAGTGACTG NCBI36
NG_027813.1:g.71649_71650insAGTGACTG , LRG_613:g.71649_71650insAGTGACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7345_7346insAGTGACTG ENSP00000432391.3:p.Ile2449LysfsTer2
ENST00000710560.1:c.7336_7337insAGTGACTG ENSP00000518343.1:p.Ile2446LysfsTer2
ENST00000649878.2:c.1285_1286insAGTGACTG ENSP00000497891.2:p.Ile429LysfsTer2
ENST00000685397.1:c.1285_1286insAGTGACTG ENSP00000509586.1:p.Ile429LysfsTer2
ENST00000686370.1:c.1285_1286insAGTGACTG ENSP00000509179.1:p.Ile429LysfsTer2
ENST00000689424.1:c.1543_1544insAGTGACTG ENSP00000509852.1:p.Ile515LysfsTer2
ENST00000691053.1:c.7318_7319insAGTGACTG ENSP00000509168.1:p.Ile2440LysfsTer2
ENST00000389506.10:c.7237_7238insAGTGACTG ENSP00000374157.5:p.Ile2413LysfsTer2
ENST00000528278.2:n.6588_6589insAGTGACTG
ENST00000534358.8:c.7246_7247insAGTGACTG MANE Select ENSP00000436786.2:p.Ile2416LysfsTer2
ENST00000649699.1:c.7123_7124insAGTGACTG ENSP00000496927.1:p.Ile2375LysfsTer2
ENST00000389506.9:c.7237_7238insAGTGACTG ENSP00000374157.5:p.Ile2413LysfsTer2
ENST00000528278.1:n.1373_1374insAGTGACTG
ENST00000534358.5:c.7246_7247insAGTGACTG ENSP00000436786.1:p.Ile2416LysfsTer2
NM_001197104.1:c.7246_7247insAGTGACTG , LRG_613t1:c.7246_7247insAGTGACTG NP_001184033.1:p.Ile2416LysfsTer2
NM_005933.3:c.7237_7238insAGTGACTG NP_005924.2:p.Ile2413LysfsTer2
XM_006718839.2:c.4729_4730insAGTGACTG XP_006718902.2:p.Ile1577LysfsTer2
XM_011542829.1:c.7345_7346insAGTGACTG XP_011541131.1:p.Ile2449LysfsTer2
XM_011542830.1:c.7342_7343insAGTGACTG XP_011541132.1:p.Ile2448LysfsTer2
XM_011542831.1:c.7336_7337insAGTGACTG XP_011541133.1:p.Ile2446LysfsTer2
XM_011542832.1:c.5152_5153insAGTGACTG XP_011541134.1:p.Ile1718LysfsTer2
XM_011542833.1:c.4828_4829insAGTGACTG XP_011541135.1:p.Ile1610LysfsTer2
XM_006718839.3:c.4729_4730insAGTGACTG XP_006718902.2:p.Ile1577LysfsTer2
XM_011542829.2:c.7345_7346insAGTGACTG XP_011541131.1:p.Ile2449LysfsTer2
XM_011542830.2:c.7342_7343insAGTGACTG XP_011541132.1:p.Ile2448LysfsTer2
XM_011542831.2:c.7336_7337insAGTGACTG XP_011541133.1:p.Ile2446LysfsTer2
XM_011542833.2:c.4828_4829insAGTGACTG XP_011541135.1:p.Ile1610LysfsTer2
NM_001197104.2:c.7246_7247insAGTGACTG MANE Select NP_001184033.1:p.Ile2416LysfsTer2
NM_005933.4:c.7237_7238insAGTGACTG NP_005924.2:p.Ile2413LysfsTer2