Canonical Allele Identifier: CA2695216337

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022137del , CM000674.2:g.49022137del	GRCh38
NC_000012.11:g.49415920del , CM000674.1:g.49415920del	GRCh37
NC_000012.10:g.47702187del	NCBI36
NG_027827.1:g.38189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.398del
ENST00000681974.1:n.1100del
ENST00000682693.1:n.2062del
ENST00000682886.1:n.834del
ENST00000683543.2:c.16476del	ENSP00000506726.1:p.Cys5493ValfsTer10
ENST00000683988.1:c.399del	ENSP00000506939.1:p.Cys134ValfsTer10
ENST00000684428.1:c.1021del	ENSP00000507433.1:n.1021del
ENST00000685024.1:c.1582del
ENST00000685166.1:c.16437del	ENSP00000509386.1:p.Cys5480ValfsTer10
ENST00000691932.1:c.429del	ENSP00000509037.1:p.Cys144ValfsTer10
ENST00000692637.1:c.16425del	ENSP00000509666.1:p.Cys5476ValfsTer10
ENST00000301067.12:c.16428del MANE Select	ENSP00000301067.7:p.Cys5477ValfsTer10
ENST00000301067.11:c.16428del	ENSP00000301067.7:p.Cys5477ValfsTer10
ENST00000526209.1:c.471del	ENSP00000435714.1:p.Cys158ValfsTer10
NM_003482.3:c.16428del	NP_003473.3:p.Cys5477ValfsTer10
XM_005269162.3:c.16428del	XP_005269219.1:p.Cys5477ValfsTer10
XM_006719614.2:c.16437del	XP_006719677.1:p.Cys5480ValfsTer10
XM_006719616.2:c.16425del	XP_006719679.1:p.Cys5476ValfsTer10
XM_011538770.1:c.16485del	XP_011537072.1:p.Cys5496ValfsTer10
XM_011538771.1:c.16482del	XP_011537073.1:p.Cys5495ValfsTer10
XM_011538772.1:c.16476del	XP_011537074.1:p.Cys5493ValfsTer10
XM_011538773.1:c.16473del	XP_011537075.1:p.Cys5492ValfsTer10
XM_011538774.1:c.16464del	XP_011537076.1:p.Cys5489ValfsTer10
XM_011538775.1:c.16419del	XP_011537077.1:p.Cys5474ValfsTer10
XM_011538776.1:c.16392del	XP_011537078.1:p.Cys5465ValfsTer10
XM_005269162.4:c.16428del	XP_005269219.1:p.Cys5477ValfsTer10
XM_006719614.4:c.16437del	XP_006719677.1:p.Cys5480ValfsTer10
XM_006719616.3:c.16425del	XP_006719679.1:p.Cys5476ValfsTer10
XM_011538770.2:c.16485del	XP_011537072.1:p.Cys5496ValfsTer10
XM_011538771.2:c.16482del	XP_011537073.1:p.Cys5495ValfsTer10
XM_011538772.2:c.16476del	XP_011537074.1:p.Cys5493ValfsTer10
XM_011538773.2:c.16473del	XP_011537075.1:p.Cys5492ValfsTer10
XM_011538774.2:c.16464del	XP_011537076.1:p.Cys5489ValfsTer10
XM_011538776.2:c.16392del	XP_011537078.1:p.Cys5465ValfsTer10
XR_001748874.1:n.16605del
NM_003482.4:c.16428del MANE Select	NP_003473.3:p.Cys5477ValfsTer10