Canonical Allele Identifier: CA2739272012

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022780dup , CM000674.2:g.49022780dup	GRCh38
NC_000012.11:g.49416563dup , CM000674.1:g.49416563dup	GRCh37
NC_000012.10:g.47702830dup	NCBI36
NG_027827.1:g.37546dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.119dup
ENST00000681974.1:n.821dup
ENST00000682693.1:n.1783dup
ENST00000682886.1:n.319dup
ENST00000683543.2:c.16197dup	ENSP00000506726.1:p.Lys5400GlnfsTer?
ENST00000683988.1:c.120dup	ENSP00000506939.1:p.Lys41GlnfsTer?
ENST00000684428.1:c.684dup	ENSP00000507433.1:p.Lys229GlnfsTer?
ENST00000684755.1:n.732dup
ENST00000685024.1:c.1303dup
ENST00000685166.1:c.16158dup	ENSP00000509386.1:p.Lys5387GlnfsTer?
ENST00000688411.1:c.626dup	ENSP00000510146.1:n.626dup
ENST00000691932.1:c.150dup	ENSP00000509037.1:p.Lys51GlnfsTer?
ENST00000692637.1:c.16146dup	ENSP00000509666.1:p.Lys5383GlnfsTer?
ENST00000301067.12:c.16149dup MANE Select	ENSP00000301067.7:p.Lys5384GlnfsTer?
ENST00000301067.11:c.16149dup	ENSP00000301067.7:p.Lys5384GlnfsTer?
ENST00000526209.1:c.192dup	ENSP00000435714.1:p.Lys65GlnfsTer?
NM_003482.3:c.16149dup	NP_003473.3:p.Lys5384GlnfsTer?
XM_005269162.3:c.16149dup	XP_005269219.1:p.Lys5384GlnfsTer?
XM_006719614.2:c.16158dup	XP_006719677.1:p.Lys5387GlnfsTer?
XM_006719616.2:c.16146dup	XP_006719679.1:p.Lys5383GlnfsTer?
XM_011538770.1:c.16206dup	XP_011537072.1:p.Lys5403GlnfsTer?
XM_011538771.1:c.16203dup	XP_011537073.1:p.Lys5402GlnfsTer?
XM_011538772.1:c.16197dup	XP_011537074.1:p.Lys5400GlnfsTer?
XM_011538773.1:c.16194dup	XP_011537075.1:p.Lys5399GlnfsTer?
XM_011538774.1:c.16185dup	XP_011537076.1:p.Lys5396GlnfsTer?
XM_011538775.1:c.16140dup	XP_011537077.1:p.Lys5381GlnfsTer?
XM_011538776.1:c.16113dup	XP_011537078.1:p.Lys5372GlnfsTer?
XM_005269162.4:c.16149dup	XP_005269219.1:p.Lys5384GlnfsTer?
XM_006719614.4:c.16158dup	XP_006719677.1:p.Lys5387GlnfsTer?
XM_006719616.3:c.16146dup	XP_006719679.1:p.Lys5383GlnfsTer?
XM_011538770.2:c.16206dup	XP_011537072.1:p.Lys5403GlnfsTer?
XM_011538771.2:c.16203dup	XP_011537073.1:p.Lys5402GlnfsTer?
XM_011538772.2:c.16197dup	XP_011537074.1:p.Lys5400GlnfsTer?
XM_011538773.2:c.16194dup	XP_011537075.1:p.Lys5399GlnfsTer?
XM_011538774.2:c.16185dup	XP_011537076.1:p.Lys5396GlnfsTer?
XM_011538776.2:c.16113dup	XP_011537078.1:p.Lys5372GlnfsTer?
XR_001748874.1:n.16326dup
NM_003482.4:c.16149dup MANE Select	NP_003473.3:p.Lys5384GlnfsTer?