Canonical Allele Identifier: CA16619277
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 423946
ClinVar RCV Id: RCV000483122
dbSNP Id: rs1064796711

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118488714del , CM000673.2:g.118488714del GRCh38
NC_000011.9:g.118359429del , CM000673.1:g.118359429del GRCh37
NC_000011.8:g.117864639del NCBI36
NG_027813.1:g.57225del , LRG_613:g.57225del

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4532del ENSP00000432391.3:p.Arg1511LeufsTer?
ENST00000710560.1:c.4532del ENSP00000518343.1:p.Arg1511LeufsTer?
ENST00000420751.4:c.344del ENSP00000510776.1:p.Arg115LeufsTer?
ENST00000685498.1:c.212del ENSP00000509293.1:p.Arg71LeufsTer?
ENST00000691053.1:c.4433del ENSP00000509168.1:p.Arg1478LeufsTer?
ENST00000389506.10:c.4433del ENSP00000374157.5:p.Arg1478LeufsTer?
ENST00000534358.8:c.4433del MANE Select ENSP00000436786.2:p.Arg1478LeufsTer?
ENST00000649699.1:c.4319del ENSP00000496927.1:p.Arg1440LeufsTer?
ENST00000389506.9:c.4433del ENSP00000374157.5:p.Arg1478LeufsTer?
ENST00000392873.3:c.569del ENSP00000376612.3:p.Arg190LeufsTer?
ENST00000534358.5:c.4433del ENSP00000436786.1:p.Arg1478LeufsTer?
NM_001197104.1:c.4433del , LRG_613t1:c.4433del NP_001184033.1:p.Arg1478LeufsTer?
NM_005933.3:c.4433del NP_005924.2:p.Arg1478LeufsTer?
XM_006718839.2:c.1916del XP_006718902.2:p.Arg639LeufsTer?
XM_011542829.1:c.4532del XP_011541131.1:p.Arg1511LeufsTer?
XM_011542830.1:c.4532del XP_011541132.1:p.Arg1511LeufsTer?
XM_011542831.1:c.4532del XP_011541133.1:p.Arg1511LeufsTer?
XM_011542832.1:c.2339del XP_011541134.1:p.Arg780LeufsTer?
XM_011542833.1:c.2015del XP_011541135.1:p.Arg672LeufsTer?
XM_006718839.3:c.1916del XP_006718902.2:p.Arg639LeufsTer?
XM_011542829.2:c.4532del XP_011541131.1:p.Arg1511LeufsTer?
XM_011542830.2:c.4532del XP_011541132.1:p.Arg1511LeufsTer?
XM_011542831.2:c.4532del XP_011541133.1:p.Arg1511LeufsTer?
XM_011542833.2:c.2015del XP_011541135.1:p.Arg672LeufsTer?
NM_001197104.2:c.4433del MANE Select NP_001184033.1:p.Arg1478LeufsTer?
NM_005933.4:c.4433del NP_005924.2:p.Arg1478LeufsTer?