Canonical Allele Identifier: CA2003519163
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491282_118491290delinsGTCCATTCC , CM000673.2:g.118491282_118491290delinsGTCCATTCC GRCh38
NC_000011.9:g.118361997_118362005delinsGTCCATTCC , CM000673.1:g.118361997_118362005delinsGTCCATTCC GRCh37
NC_000011.8:g.117867207_117867215delinsGTCCATTCC NCBI36
NG_027813.1:g.59793_59801delinsGTCCATTCC , LRG_613:g.59793_59801delinsGTCCATTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4882_4890delinsGTCCATTCC ENSP00000432391.3:p.Val1628=
ENST00000710560.1:c.4882_4890delinsGTCCATTCC ENSP00000518343.1:p.Val1628=
ENST00000685498.1:c.559_567delinsGTCCATTCC ENSP00000509293.1:p.Val187=
ENST00000691053.1:c.4783_4791delinsGTCCATTCC ENSP00000509168.1:p.Val1595=
ENST00000389506.10:c.4783_4791delinsGTCCATTCC ENSP00000374157.5:p.Val1595=
ENST00000534358.8:c.4783_4791delinsGTCCATTCC MANE Select ENSP00000436786.2:p.Val1595=
ENST00000649699.1:c.4669_4677delinsGTCCATTCC ENSP00000496927.1:p.Val1557=
ENST00000389506.9:c.4783_4791delinsGTCCATTCC ENSP00000374157.5:p.Val1595=
ENST00000392873.3:c.919_927delinsGTCCATTCC ENSP00000376612.3:p.Val307=
ENST00000534358.5:c.4783_4791delinsGTCCATTCC ENSP00000436786.1:p.Val1595=
NM_001197104.1:c.4783_4791delinsGTCCATTCC , LRG_613t1:c.4783_4791delinsGTCCATTCC NP_001184033.1:p.Val1595=
NM_005933.3:c.4783_4791delinsGTCCATTCC NP_005924.2:p.Val1595=
XM_006718839.2:c.2266_2274delinsGTCCATTCC XP_006718902.2:p.Val756=
XM_011542829.1:c.4882_4890delinsGTCCATTCC XP_011541131.1:p.Val1628=
XM_011542830.1:c.4879_4887delinsGTCCATTCC XP_011541132.1:p.Val1627=
XM_011542831.1:c.4882_4890delinsGTCCATTCC XP_011541133.1:p.Val1628=
XM_011542832.1:c.2689_2697delinsGTCCATTCC XP_011541134.1:p.Val897=
XM_011542833.1:c.2365_2373delinsGTCCATTCC XP_011541135.1:p.Val789=
XM_006718839.3:c.2266_2274delinsGTCCATTCC XP_006718902.2:p.Val756=
XM_011542829.2:c.4882_4890delinsGTCCATTCC XP_011541131.1:p.Val1628=
XM_011542830.2:c.4879_4887delinsGTCCATTCC XP_011541132.1:p.Val1627=
XM_011542831.2:c.4882_4890delinsGTCCATTCC XP_011541133.1:p.Val1628=
XM_011542833.2:c.2365_2373delinsGTCCATTCC XP_011541135.1:p.Val789=
NM_001197104.2:c.4783_4791delinsGTCCATTCC MANE Select NP_001184033.1:p.Val1595=
NM_005933.4:c.4783_4791delinsGTCCATTCC NP_005924.2:p.Val1595=