Canonical Allele Identifier: CA2695216340

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022601del , CM000674.2:g.49022601del	GRCh38
NC_000012.11:g.49416384del , CM000674.1:g.49416384del	GRCh37
NC_000012.10:g.47702651del	NCBI36
NG_027827.1:g.37724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.297del
ENST00000681974.1:n.999del
ENST00000682693.1:n.1961del
ENST00000682886.1:n.497del
ENST00000683543.2:c.16375del	ENSP00000506726.1:p.Tyr5459ThrfsTer13
ENST00000683988.1:c.298del	ENSP00000506939.1:p.Tyr100ThrfsTer13
ENST00000684428.1:c.862del	ENSP00000507433.1:p.Tyr288ThrfsTer23
ENST00000684755.1:n.910del
ENST00000685024.1:c.1481del
ENST00000685166.1:c.16336del	ENSP00000509386.1:p.Tyr5446ThrfsTer13
ENST00000688411.1:c.804del	ENSP00000510146.1:n.804del
ENST00000691932.1:c.328del	ENSP00000509037.1:p.Tyr110ThrfsTer13
ENST00000692637.1:c.16324del	ENSP00000509666.1:p.Tyr5442ThrfsTer13
ENST00000301067.12:c.16327del MANE Select	ENSP00000301067.7:p.Tyr5443ThrfsTer13
ENST00000301067.11:c.16327del	ENSP00000301067.7:p.Tyr5443ThrfsTer13
ENST00000526209.1:c.370del	ENSP00000435714.1:p.Tyr124ThrfsTer13
NM_003482.3:c.16327del	NP_003473.3:p.Tyr5443ThrfsTer13
XM_005269162.3:c.16327del	XP_005269219.1:p.Tyr5443ThrfsTer13
XM_006719614.2:c.16336del	XP_006719677.1:p.Tyr5446ThrfsTer13
XM_006719616.2:c.16324del	XP_006719679.1:p.Tyr5442ThrfsTer13
XM_011538770.1:c.16384del	XP_011537072.1:p.Tyr5462ThrfsTer13
XM_011538771.1:c.16381del	XP_011537073.1:p.Tyr5461ThrfsTer13
XM_011538772.1:c.16375del	XP_011537074.1:p.Tyr5459ThrfsTer13
XM_011538773.1:c.16372del	XP_011537075.1:p.Tyr5458ThrfsTer13
XM_011538774.1:c.16363del	XP_011537076.1:p.Tyr5455ThrfsTer13
XM_011538775.1:c.16318del	XP_011537077.1:p.Tyr5440ThrfsTer13
XM_011538776.1:c.16291del	XP_011537078.1:p.Tyr5431ThrfsTer13
XM_005269162.4:c.16327del	XP_005269219.1:p.Tyr5443ThrfsTer13
XM_006719614.4:c.16336del	XP_006719677.1:p.Tyr5446ThrfsTer13
XM_006719616.3:c.16324del	XP_006719679.1:p.Tyr5442ThrfsTer13
XM_011538770.2:c.16384del	XP_011537072.1:p.Tyr5462ThrfsTer13
XM_011538771.2:c.16381del	XP_011537073.1:p.Tyr5461ThrfsTer13
XM_011538772.2:c.16375del	XP_011537074.1:p.Tyr5459ThrfsTer13
XM_011538773.2:c.16372del	XP_011537075.1:p.Tyr5458ThrfsTer13
XM_011538774.2:c.16363del	XP_011537076.1:p.Tyr5455ThrfsTer13
XM_011538776.2:c.16291del	XP_011537078.1:p.Tyr5431ThrfsTer13
XR_001748874.1:n.16504del
NM_003482.4:c.16327del MANE Select	NP_003473.3:p.Tyr5443ThrfsTer13