Canonical Allele Identifier: CA2034947871

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042173_49042176delinsCCTT , CM000674.2:g.49042173_49042176delinsCCTT	GRCh38
NC_000012.11:g.49435956_49435959delinsCCTT , CM000674.1:g.49435956_49435959delinsCCTT	GRCh37
NC_000012.10:g.47722223_47722226delinsCCTT	NCBI36
NG_027827.1:g.18149_18152delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.813_816delinsAAGG
ENST00000683543.2:c.6022_6025delinsAAGG	ENSP00000506726.1:p.Lys2008=
ENST00000685166.1:c.6031_6034delinsAAGG	ENSP00000509386.1:p.Lys2011=
ENST00000689060.1:c.134_137delinsAAGG
ENST00000689944.1:c.134_137delinsAAGG
ENST00000692637.1:c.6019_6022delinsAAGG	ENSP00000509666.1:p.Lys2007=
ENST00000301067.12:c.6022_6025delinsAAGG MANE Select	ENSP00000301067.7:p.Lys2008=
ENST00000301067.11:c.6022_6025delinsAAGG	ENSP00000301067.7:p.Lys2008=
NM_003482.3:c.6022_6025delinsAAGG	NP_003473.3:p.Lys2008=
XM_005269162.3:c.6022_6025delinsAAGG	XP_005269219.1:p.Lys2008=
XM_006719614.2:c.6031_6034delinsAAGG	XP_006719677.1:p.Lys2011=
XM_006719616.2:c.6019_6022delinsAAGG	XP_006719679.1:p.Lys2007=
XM_011538770.1:c.6031_6034delinsAAGG	XP_011537072.1:p.Lys2011=
XM_011538771.1:c.6028_6031delinsAAGG	XP_011537073.1:p.Lys2010=
XM_011538772.1:c.6022_6025delinsAAGG	XP_011537074.1:p.Lys2008=
XM_011538773.1:c.6019_6022delinsAAGG	XP_011537075.1:p.Lys2007=
XM_011538774.1:c.6010_6013delinsAAGG	XP_011537076.1:p.Lys2004=
XM_011538775.1:c.6031_6034delinsAAGG	XP_011537077.1:p.Lys2011=
XM_011538776.1:c.6031_6034delinsAAGG	XP_011537078.1:p.Lys2011=
XR_944740.1:n.8351_8354delinsAAGG
XM_005269162.4:c.6022_6025delinsAAGG	XP_005269219.1:p.Lys2008=
XM_006719614.4:c.6031_6034delinsAAGG	XP_006719677.1:p.Lys2011=
XM_006719616.3:c.6019_6022delinsAAGG	XP_006719679.1:p.Lys2007=
XM_011538770.2:c.6031_6034delinsAAGG	XP_011537072.1:p.Lys2011=
XM_011538771.2:c.6028_6031delinsAAGG	XP_011537073.1:p.Lys2010=
XM_011538772.2:c.6022_6025delinsAAGG	XP_011537074.1:p.Lys2008=
XM_011538773.2:c.6019_6022delinsAAGG	XP_011537075.1:p.Lys2007=
XM_011538774.2:c.6010_6013delinsAAGG	XP_011537076.1:p.Lys2004=
XM_011538776.2:c.6031_6034delinsAAGG	XP_011537078.1:p.Lys2011=
XR_001748874.1:n.7340_7343delinsAAGG
NM_003482.4:c.6022_6025delinsAAGG MANE Select	NP_003473.3:p.Lys2008=