Canonical Allele Identifier: CA2695216336

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022122del , CM000674.2:g.49022122del	GRCh38
NC_000012.11:g.49415905del , CM000674.1:g.49415905del	GRCh37
NC_000012.10:g.47702172del	NCBI36
NG_027827.1:g.38203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.412del
ENST00000681974.1:n.1114del
ENST00000682693.1:n.2076del
ENST00000682886.1:n.848del
ENST00000683543.2:c.16490del	ENSP00000506726.1:p.Cys5497LeufsTer6
ENST00000683988.1:c.413del	ENSP00000506939.1:p.Cys138LeufsTer6
ENST00000684428.1:c.1035del	ENSP00000507433.1:n.1035del
ENST00000685024.1:c.1596del
ENST00000685166.1:c.16451del	ENSP00000509386.1:p.Cys5484LeufsTer6
ENST00000691932.1:c.443del	ENSP00000509037.1:p.Cys148LeufsTer6
ENST00000692637.1:c.16439del	ENSP00000509666.1:p.Cys5480LeufsTer6
ENST00000301067.12:c.16442del MANE Select	ENSP00000301067.7:p.Cys5481LeufsTer6
ENST00000301067.11:c.16442del	ENSP00000301067.7:p.Cys5481LeufsTer6
ENST00000526209.1:c.485del	ENSP00000435714.1:p.Cys162LeufsTer6
NM_003482.3:c.16442del	NP_003473.3:p.Cys5481LeufsTer6
XM_005269162.3:c.16442del	XP_005269219.1:p.Cys5481LeufsTer6
XM_006719614.2:c.16451del	XP_006719677.1:p.Cys5484LeufsTer6
XM_006719616.2:c.16439del	XP_006719679.1:p.Cys5480LeufsTer6
XM_011538770.1:c.16499del	XP_011537072.1:p.Cys5500LeufsTer6
XM_011538771.1:c.16496del	XP_011537073.1:p.Cys5499LeufsTer6
XM_011538772.1:c.16490del	XP_011537074.1:p.Cys5497LeufsTer6
XM_011538773.1:c.16487del	XP_011537075.1:p.Cys5496LeufsTer6
XM_011538774.1:c.16478del	XP_011537076.1:p.Cys5493LeufsTer6
XM_011538775.1:c.16433del	XP_011537077.1:p.Cys5478LeufsTer6
XM_011538776.1:c.16406del	XP_011537078.1:p.Cys5469LeufsTer6
XM_005269162.4:c.16442del	XP_005269219.1:p.Cys5481LeufsTer6
XM_006719614.4:c.16451del	XP_006719677.1:p.Cys5484LeufsTer6
XM_006719616.3:c.16439del	XP_006719679.1:p.Cys5480LeufsTer6
XM_011538770.2:c.16499del	XP_011537072.1:p.Cys5500LeufsTer6
XM_011538771.2:c.16496del	XP_011537073.1:p.Cys5499LeufsTer6
XM_011538772.2:c.16490del	XP_011537074.1:p.Cys5497LeufsTer6
XM_011538773.2:c.16487del	XP_011537075.1:p.Cys5496LeufsTer6
XM_011538774.2:c.16478del	XP_011537076.1:p.Cys5493LeufsTer6
XM_011538776.2:c.16406del	XP_011537078.1:p.Cys5469LeufsTer6
XR_001748874.1:n.16619del
NM_003482.4:c.16442del MANE Select	NP_003473.3:p.Cys5481LeufsTer6