Canonical Allele Identifier: CA658823394

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033071_49033072del , CM000674.2:g.49033071_49033072del	GRCh38
NC_000012.11:g.49426854_49426855del , CM000674.1:g.49426854_49426855del	GRCh37
NC_000012.10:g.47713121_47713122del	NCBI36
NG_027827.1:g.27255_27256del

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11635_11636del MANE Select	NP_003473.3:p.Leu3880AspfsTer?
ENST00000301067.12:c.11635_11636del MANE Select	ENSP00000301067.7:p.Leu3880AspfsTer?
NM_003482.3:c.11635_11636del	NP_003473.3:p.Leu3880AspfsTer?
ENST00000301067.11:c.11635_11636del	ENSP00000301067.7:p.Leu3880AspfsTer?
ENST00000683543.2:c.11635_11636del	ENSP00000506726.1:p.Leu3880AspfsTer?
ENST00000685166.1:c.11644_11645del	ENSP00000509386.1:p.Leu3883AspfsTer?
ENST00000685554.1:c.1195_1196del	ENSP00000508640.1:p.Leu400AspfsTer?
ENST00000687201.1:c.3214_3215del	ENSP00000510037.1:p.Leu1073AspfsTer?
ENST00000692637.1:c.11632_11633del	ENSP00000509666.1:p.Leu3879AspfsTer?
ENST00000692841.1:c.3114_3115del	ENSP00000508711.1:n.3114_3115del
XM_005269162.3:c.11635_11636del	XP_005269219.1:p.Leu3880AspfsTer?
XM_005269162.4:c.11635_11636del	XP_005269219.1:p.Leu3880AspfsTer?
XM_006719614.2:c.11644_11645del	XP_006719677.1:p.Leu3883AspfsTer?
XM_006719614.4:c.11644_11645del	XP_006719677.1:p.Leu3883AspfsTer?
XM_006719616.2:c.11632_11633del	XP_006719679.1:p.Leu3879AspfsTer?
XM_006719616.3:c.11632_11633del	XP_006719679.1:p.Leu3879AspfsTer?
XM_011538770.1:c.11644_11645del	XP_011537072.1:p.Leu3883AspfsTer?
XM_011538770.2:c.11644_11645del	XP_011537072.1:p.Leu3883AspfsTer?
XM_011538771.1:c.11641_11642del	XP_011537073.1:p.Leu3882AspfsTer?
XM_011538771.2:c.11641_11642del	XP_011537073.1:p.Leu3882AspfsTer?
XM_011538772.1:c.11635_11636del	XP_011537074.1:p.Leu3880AspfsTer?
XM_011538772.2:c.11635_11636del	XP_011537074.1:p.Leu3880AspfsTer?
XM_011538773.1:c.11632_11633del	XP_011537075.1:p.Leu3879AspfsTer?
XM_011538773.2:c.11632_11633del	XP_011537075.1:p.Leu3879AspfsTer?
XM_011538774.1:c.11623_11624del	XP_011537076.1:p.Leu3876AspfsTer?
XM_011538774.2:c.11623_11624del	XP_011537076.1:p.Leu3876AspfsTer?
XM_011538775.1:c.11644_11645del	XP_011537077.1:p.Leu3883AspfsTer?
XM_011538776.1:c.11551_11552del	XP_011537078.1:p.Leu3852AspfsTer?
XM_011538776.2:c.11551_11552del	XP_011537078.1:p.Leu3852AspfsTer?
XR_001748874.1:n.12953_12954del
XR_944740.1:n.13964_13965del