Canonical Allele Identifier: CA658823387

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49038406del , CM000674.2:g.49038406del	GRCh38
NC_000012.11:g.49432189del , CM000674.1:g.49432189del	GRCh37
NC_000012.10:g.47718456del	NCBI36
NG_027827.1:g.21921del

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.8952del MANE Select	NP_003473.3:p.Lys2985SerfsTer19
ENST00000301067.12:c.8952del MANE Select	ENSP00000301067.7:p.Lys2985SerfsTer19
NM_003482.3:c.8952del	NP_003473.3:p.Lys2985SerfsTer19
ENST00000301067.11:c.8952del	ENSP00000301067.7:p.Lys2985SerfsTer19
ENST00000683043.1:n.651del
ENST00000683543.2:c.8952del	ENSP00000506726.1:p.Lys2985SerfsTer19
ENST00000685166.1:c.8961del	ENSP00000509386.1:p.Lys2988SerfsTer19
ENST00000687201.1:c.516del	ENSP00000510037.1:p.Lys173SerfsTer19
ENST00000689143.1:c.2555del	ENSP00000509839.1:n.2555del
ENST00000692637.1:c.8949del	ENSP00000509666.1:p.Lys2984SerfsTer19
ENST00000692841.1:c.516del	ENSP00000508711.1:p.Lys173SerfsTer19
XM_005269162.3:c.8952del	XP_005269219.1:p.Lys2985SerfsTer19
XM_005269162.4:c.8952del	XP_005269219.1:p.Lys2985SerfsTer19
XM_006719614.2:c.8961del	XP_006719677.1:p.Lys2988SerfsTer19
XM_006719614.4:c.8961del	XP_006719677.1:p.Lys2988SerfsTer19
XM_006719616.2:c.8949del	XP_006719679.1:p.Lys2984SerfsTer19
XM_006719616.3:c.8949del	XP_006719679.1:p.Lys2984SerfsTer19
XM_011538770.1:c.8961del	XP_011537072.1:p.Lys2988SerfsTer19
XM_011538770.2:c.8961del	XP_011537072.1:p.Lys2988SerfsTer19
XM_011538771.1:c.8958del	XP_011537073.1:p.Lys2987SerfsTer19
XM_011538771.2:c.8958del	XP_011537073.1:p.Lys2987SerfsTer19
XM_011538772.1:c.8952del	XP_011537074.1:p.Lys2985SerfsTer19
XM_011538772.2:c.8952del	XP_011537074.1:p.Lys2985SerfsTer19
XM_011538773.1:c.8949del	XP_011537075.1:p.Lys2984SerfsTer19
XM_011538773.2:c.8949del	XP_011537075.1:p.Lys2984SerfsTer19
XM_011538774.1:c.8940del	XP_011537076.1:p.Lys2981SerfsTer19
XM_011538774.2:c.8940del	XP_011537076.1:p.Lys2981SerfsTer19
XM_011538775.1:c.8961del	XP_011537077.1:p.Lys2988SerfsTer19
XM_011538776.1:c.8868del	XP_011537078.1:p.Lys2957SerfsTer19
XM_011538776.2:c.8868del	XP_011537078.1:p.Lys2957SerfsTer19
XR_001748874.1:n.10270del
XR_944740.1:n.11281del