Canonical Allele Identifier: CA2695216339

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022320_49022323del , CM000674.2:g.49022320_49022323del	GRCh38
NC_000012.11:g.49416103_49416106del , CM000674.1:g.49416103_49416106del	GRCh37
NC_000012.10:g.47702370_47702373del	NCBI36
NG_027827.1:g.38004_38007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.341_344del
ENST00000681974.1:n.1043_1046del
ENST00000682693.1:n.2005_2008del
ENST00000682886.1:n.777_780del
ENST00000683543.2:c.16419_16422del	ENSP00000506726.1:p.Glu5474MetfsTer2
ENST00000683988.1:c.342_345del	ENSP00000506939.1:p.Glu115MetfsTer2
ENST00000684428.1:c.964_967del	ENSP00000507433.1:n.[c.964_967del;Ter322HisextTer?]
ENST00000685024.1:c.1525_1528del
ENST00000685166.1:c.16380_16383del	ENSP00000509386.1:p.Glu5461MetfsTer2
ENST00000691932.1:c.372_375del	ENSP00000509037.1:p.Glu125MetfsTer2
ENST00000692637.1:c.16368_16371del	ENSP00000509666.1:p.Glu5457MetfsTer2
ENST00000301067.12:c.16371_16374del MANE Select	ENSP00000301067.7:p.Glu5458MetfsTer2
ENST00000301067.11:c.16371_16374del	ENSP00000301067.7:p.Glu5458MetfsTer2
ENST00000526209.1:c.414_417del	ENSP00000435714.1:p.Glu139MetfsTer2
NM_003482.3:c.16371_16374del	NP_003473.3:p.Glu5458MetfsTer2
XM_005269162.3:c.16371_16374del	XP_005269219.1:p.Glu5458MetfsTer2
XM_006719614.2:c.16380_16383del	XP_006719677.1:p.Glu5461MetfsTer2
XM_006719616.2:c.16368_16371del	XP_006719679.1:p.Glu5457MetfsTer2
XM_011538770.1:c.16428_16431del	XP_011537072.1:p.Glu5477MetfsTer2
XM_011538771.1:c.16425_16428del	XP_011537073.1:p.Glu5476MetfsTer2
XM_011538772.1:c.16419_16422del	XP_011537074.1:p.Glu5474MetfsTer2
XM_011538773.1:c.16416_16419del	XP_011537075.1:p.Glu5473MetfsTer2
XM_011538774.1:c.16407_16410del	XP_011537076.1:p.Glu5470MetfsTer2
XM_011538775.1:c.16362_16365del	XP_011537077.1:p.Glu5455MetfsTer2
XM_011538776.1:c.16335_16338del	XP_011537078.1:p.Glu5446MetfsTer2
XM_005269162.4:c.16371_16374del	XP_005269219.1:p.Glu5458MetfsTer2
XM_006719614.4:c.16380_16383del	XP_006719677.1:p.Glu5461MetfsTer2
XM_006719616.3:c.16368_16371del	XP_006719679.1:p.Glu5457MetfsTer2
XM_011538770.2:c.16428_16431del	XP_011537072.1:p.Glu5477MetfsTer2
XM_011538771.2:c.16425_16428del	XP_011537073.1:p.Glu5476MetfsTer2
XM_011538772.2:c.16419_16422del	XP_011537074.1:p.Glu5474MetfsTer2
XM_011538773.2:c.16416_16419del	XP_011537075.1:p.Glu5473MetfsTer2
XM_011538774.2:c.16407_16410del	XP_011537076.1:p.Glu5470MetfsTer2
XM_011538776.2:c.16335_16338del	XP_011537078.1:p.Glu5446MetfsTer2
XR_001748874.1:n.16548_16551del
NM_003482.4:c.16371_16374del MANE Select	NP_003473.3:p.Glu5458MetfsTer2