Canonical Allele Identifier: CA2726161250
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2120553492

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042181del , CM000674.2:g.49042181del GRCh38
NC_000012.11:g.49435964del , CM000674.1:g.49435964del GRCh37
NC_000012.10:g.47722231del NCBI36
NG_027827.1:g.18146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650290.2:c.810del
ENST00000683543.2:c.6019del ENSP00000506726.1:p.Glu2007ArgfsTer?
ENST00000685166.1:c.6028del ENSP00000509386.1:p.Glu2010ArgfsTer?
ENST00000689060.1:c.131del
ENST00000689944.1:c.131del
ENST00000692637.1:c.6016del ENSP00000509666.1:p.Glu2006ArgfsTer?
ENST00000301067.12:c.6019del MANE Select ENSP00000301067.7:p.Glu2007ArgfsTer?
ENST00000301067.11:c.6019del ENSP00000301067.7:p.Glu2007ArgfsTer?
NM_003482.3:c.6019del NP_003473.3:p.Glu2007ArgfsTer?
XM_005269162.3:c.6019del XP_005269219.1:p.Glu2007ArgfsTer?
XM_006719614.2:c.6028del XP_006719677.1:p.Glu2010ArgfsTer?
XM_006719616.2:c.6016del XP_006719679.1:p.Glu2006ArgfsTer?
XM_011538770.1:c.6028del XP_011537072.1:p.Glu2010ArgfsTer?
XM_011538771.1:c.6025del XP_011537073.1:p.Glu2009ArgfsTer?
XM_011538772.1:c.6019del XP_011537074.1:p.Glu2007ArgfsTer?
XM_011538773.1:c.6016del XP_011537075.1:p.Glu2006ArgfsTer?
XM_011538774.1:c.6007del XP_011537076.1:p.Glu2003ArgfsTer?
XM_011538775.1:c.6028del XP_011537077.1:p.Glu2010ArgfsTer?
XM_011538776.1:c.6028del XP_011537078.1:p.Glu2010ArgfsTer?
XR_944740.1:n.8348del
XM_005269162.4:c.6019del XP_005269219.1:p.Glu2007ArgfsTer?
XM_006719614.4:c.6028del XP_006719677.1:p.Glu2010ArgfsTer?
XM_006719616.3:c.6016del XP_006719679.1:p.Glu2006ArgfsTer?
XM_011538770.2:c.6028del XP_011537072.1:p.Glu2010ArgfsTer?
XM_011538771.2:c.6025del XP_011537073.1:p.Glu2009ArgfsTer?
XM_011538772.2:c.6019del XP_011537074.1:p.Glu2007ArgfsTer?
XM_011538773.2:c.6016del XP_011537075.1:p.Glu2006ArgfsTer?
XM_011538774.2:c.6007del XP_011537076.1:p.Glu2003ArgfsTer?
XM_011538776.2:c.6028del XP_011537078.1:p.Glu2010ArgfsTer?
XR_001748874.1:n.7337del
NM_003482.4:c.6019del MANE Select NP_003473.3:p.Glu2007ArgfsTer?