Canonical Allele Identifier: CA1139662656

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030915del , CM000674.2:g.49030915del	GRCh38
NC_000012.11:g.49424698del , CM000674.1:g.49424698del	GRCh37
NC_000012.10:g.47710965del	NCBI36
NG_027827.1:g.29411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.350del
ENST00000683543.2:c.13650del	ENSP00000506726.1:p.Leu4551CysfsTer2
ENST00000685166.1:c.13659del	ENSP00000509386.1:p.Leu4554CysfsTer2
ENST00000685982.1:c.139-146del	ENSP00000508613.1:n.139-146del
ENST00000691986.1:c.138+261del	ENSP00000509196.1:n.138+261del
ENST00000692637.1:c.13647del	ENSP00000509666.1:p.Leu4550CysfsTer2
ENST00000692973.1:c.251del	ENSP00000508893.1:n.251del
ENST00000301067.12:c.13650del MANE Select	ENSP00000301067.7:p.Leu4551CysfsTer2
ENST00000301067.11:c.13650del	ENSP00000301067.7:p.Leu4551CysfsTer2
ENST00000552391.1:n.350del
NM_003482.3:c.13650del	NP_003473.3:p.Leu4551CysfsTer2
XM_005269162.3:c.13650del	XP_005269219.1:p.Leu4551CysfsTer2
XM_006719614.2:c.13659del	XP_006719677.1:p.Leu4554CysfsTer2
XM_006719616.2:c.13647del	XP_006719679.1:p.Leu4550CysfsTer2
XM_011538770.1:c.13659del	XP_011537072.1:p.Leu4554CysfsTer2
XM_011538771.1:c.13656del	XP_011537073.1:p.Leu4553CysfsTer2
XM_011538772.1:c.13650del	XP_011537074.1:p.Leu4551CysfsTer2
XM_011538773.1:c.13647del	XP_011537075.1:p.Leu4550CysfsTer2
XM_011538774.1:c.13638del	XP_011537076.1:p.Leu4547CysfsTer2
XM_011538775.1:c.13659del	XP_011537077.1:p.Leu4554CysfsTer2
XM_011538776.1:c.13566del	XP_011537078.1:p.Leu4523CysfsTer2
XR_944740.1:n.15979del
XM_005269162.4:c.13650del	XP_005269219.1:p.Leu4551CysfsTer2
XM_006719614.4:c.13659del	XP_006719677.1:p.Leu4554CysfsTer2
XM_006719616.3:c.13647del	XP_006719679.1:p.Leu4550CysfsTer2
XM_011538770.2:c.13659del	XP_011537072.1:p.Leu4554CysfsTer2
XM_011538771.2:c.13656del	XP_011537073.1:p.Leu4553CysfsTer2
XM_011538772.2:c.13650del	XP_011537074.1:p.Leu4551CysfsTer2
XM_011538773.2:c.13647del	XP_011537075.1:p.Leu4550CysfsTer2
XM_011538774.2:c.13638del	XP_011537076.1:p.Leu4547CysfsTer2
XM_011538776.2:c.13566del	XP_011537078.1:p.Leu4523CysfsTer2
XR_001748874.1:n.14968del
NM_003482.4:c.13650del MANE Select	NP_003473.3:p.Leu4551CysfsTer2