Canonical Allele Identifier: CA2825002000
Community Standard Title: NM_001197104.2(KMT2A):c.5639del (p.Leu1880Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118496342del , CM000673.2:g.118496342del GRCh38
NC_000011.9:g.118367057del , CM000673.1:g.118367057del GRCh37
NC_000011.8:g.117872267del NCBI36
NG_027813.1:g.64853del , LRG_613:g.64853del

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.5639del MANE Select NP_001184033.1:p.Leu1880Ter
ENST00000534358.8:c.5639del MANE Select ENSP00000436786.2:p.Leu1880Ter
NM_001197104.1:c.5639del , LRG_613t1:c.5639del NP_001184033.1:p.Leu1880Ter
NM_005933.3:c.5630del NP_005924.2:p.Leu1877Ter
NM_005933.4:c.5630del NP_005924.2:p.Leu1877Ter
ENST00000389506.10:c.5630del ENSP00000374157.5:p.Leu1877Ter
ENST00000389506.9:c.5630del ENSP00000374157.5:p.Leu1877Ter
ENST00000528278.2:n.1152del
ENST00000531904.7:c.5738del ENSP00000432391.3:p.Leu1913Ter
ENST00000534358.5:c.5639del ENSP00000436786.1:p.Leu1880Ter
ENST00000649699.1:c.5516del ENSP00000496927.1:p.Leu1839Ter
ENST00000691002.1:c.576del
ENST00000691053.1:c.5630del ENSP00000509168.1:p.Leu1877Ter
ENST00000693536.1:c.521del
ENST00000710560.1:c.5729del ENSP00000518343.1:p.Leu1910Ter
XM_006718839.2:c.3122del XP_006718902.2:p.Leu1041Ter
XM_006718839.3:c.3122del XP_006718902.2:p.Leu1041Ter
XM_011542829.1:c.5738del XP_011541131.1:p.Leu1913Ter
XM_011542829.2:c.5738del XP_011541131.1:p.Leu1913Ter
XM_011542830.1:c.5735del XP_011541132.1:p.Leu1912Ter
XM_011542830.2:c.5735del XP_011541132.1:p.Leu1912Ter
XM_011542831.1:c.5729del XP_011541133.1:p.Leu1910Ter
XM_011542831.2:c.5729del XP_011541133.1:p.Leu1910Ter
XM_011542832.1:c.3545del XP_011541134.1:p.Leu1182Ter
XM_011542833.1:c.3221del XP_011541135.1:p.Leu1074Ter
XM_011542833.2:c.3221del XP_011541135.1:p.Leu1074Ter