Canonical Allele Identifier: CA2695216341

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022612del , CM000674.2:g.49022612del	GRCh38
NC_000012.11:g.49416395del , CM000674.1:g.49416395del	GRCh37
NC_000012.10:g.47702662del	NCBI36
NG_027827.1:g.37715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.288del
ENST00000681974.1:n.990del
ENST00000682693.1:n.1952del
ENST00000682886.1:n.488del
ENST00000683543.2:c.16366del	ENSP00000506726.1:p.Glu5456ArgfsTer16
ENST00000683988.1:c.289del	ENSP00000506939.1:p.Glu97ArgfsTer16
ENST00000684428.1:c.853del	ENSP00000507433.1:p.Glu285ArgfsTer26
ENST00000684755.1:n.901del
ENST00000685024.1:c.1472del
ENST00000685166.1:c.16327del	ENSP00000509386.1:p.Glu5443ArgfsTer16
ENST00000688411.1:c.795del	ENSP00000510146.1:n.795del
ENST00000691932.1:c.319del	ENSP00000509037.1:p.Glu107ArgfsTer16
ENST00000692637.1:c.16315del	ENSP00000509666.1:p.Glu5439ArgfsTer16
ENST00000301067.12:c.16318del MANE Select	ENSP00000301067.7:p.Glu5440ArgfsTer16
ENST00000301067.11:c.16318del	ENSP00000301067.7:p.Glu5440ArgfsTer16
ENST00000526209.1:c.361del	ENSP00000435714.1:p.Glu121ArgfsTer16
NM_003482.3:c.16318del	NP_003473.3:p.Glu5440ArgfsTer16
XM_005269162.3:c.16318del	XP_005269219.1:p.Glu5440ArgfsTer16
XM_006719614.2:c.16327del	XP_006719677.1:p.Glu5443ArgfsTer16
XM_006719616.2:c.16315del	XP_006719679.1:p.Glu5439ArgfsTer16
XM_011538770.1:c.16375del	XP_011537072.1:p.Glu5459ArgfsTer16
XM_011538771.1:c.16372del	XP_011537073.1:p.Glu5458ArgfsTer16
XM_011538772.1:c.16366del	XP_011537074.1:p.Glu5456ArgfsTer16
XM_011538773.1:c.16363del	XP_011537075.1:p.Glu5455ArgfsTer16
XM_011538774.1:c.16354del	XP_011537076.1:p.Glu5452ArgfsTer16
XM_011538775.1:c.16309del	XP_011537077.1:p.Glu5437ArgfsTer16
XM_011538776.1:c.16282del	XP_011537078.1:p.Glu5428ArgfsTer16
XM_005269162.4:c.16318del	XP_005269219.1:p.Glu5440ArgfsTer16
XM_006719614.4:c.16327del	XP_006719677.1:p.Glu5443ArgfsTer16
XM_006719616.3:c.16315del	XP_006719679.1:p.Glu5439ArgfsTer16
XM_011538770.2:c.16375del	XP_011537072.1:p.Glu5459ArgfsTer16
XM_011538771.2:c.16372del	XP_011537073.1:p.Glu5458ArgfsTer16
XM_011538772.2:c.16366del	XP_011537074.1:p.Glu5456ArgfsTer16
XM_011538773.2:c.16363del	XP_011537075.1:p.Glu5455ArgfsTer16
XM_011538774.2:c.16354del	XP_011537076.1:p.Glu5452ArgfsTer16
XM_011538776.2:c.16282del	XP_011537078.1:p.Glu5428ArgfsTer16
XR_001748874.1:n.16495del
NM_003482.4:c.16318del MANE Select	NP_003473.3:p.Glu5440ArgfsTer16