Canonical Allele Identifier: CA658823370

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022096del , CM000674.2:g.49022096del	GRCh38
NC_000012.11:g.49415879del , CM000674.1:g.49415879del	GRCh37
NC_000012.10:g.47702146del	NCBI36
NG_027827.1:g.38231del

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16470del MANE Select	NP_003473.3:p.Glu5491ArgfsTer18
ENST00000301067.12:c.16470del MANE Select	ENSP00000301067.7:p.Glu5491ArgfsTer18
NM_003482.3:c.16470del	NP_003473.3:p.Glu5491ArgfsTer18
ENST00000301067.11:c.16470del	ENSP00000301067.7:p.Glu5491ArgfsTer18
ENST00000526209.1:c.513del	ENSP00000435714.1:p.Glu172ArgfsTer18
ENST00000526209.2:c.440del
ENST00000681974.1:n.1142del
ENST00000682693.1:n.2104del
ENST00000682886.1:n.876del
ENST00000683543.2:c.16518del	ENSP00000506726.1:p.Glu5507ArgfsTer18
ENST00000683988.1:c.441del	ENSP00000506939.1:p.Glu148ArgfsTer18
ENST00000684428.1:c.1063del	ENSP00000507433.1:n.1063del
ENST00000685024.1:c.1624del
ENST00000685166.1:c.16479del	ENSP00000509386.1:p.Glu5494ArgfsTer18
ENST00000691932.1:c.471del	ENSP00000509037.1:p.Glu158ArgfsTer18
ENST00000692637.1:c.16467del	ENSP00000509666.1:p.Glu5490ArgfsTer18
XM_005269162.3:c.16470del	XP_005269219.1:p.Glu5491ArgfsTer18
XM_005269162.4:c.16470del	XP_005269219.1:p.Glu5491ArgfsTer18
XM_006719614.2:c.16479del	XP_006719677.1:p.Glu5494ArgfsTer18
XM_006719614.4:c.16479del	XP_006719677.1:p.Glu5494ArgfsTer18
XM_006719616.2:c.16467del	XP_006719679.1:p.Glu5490ArgfsTer18
XM_006719616.3:c.16467del	XP_006719679.1:p.Glu5490ArgfsTer18
XM_011538770.1:c.16527del	XP_011537072.1:p.Glu5510ArgfsTer18
XM_011538770.2:c.16527del	XP_011537072.1:p.Glu5510ArgfsTer18
XM_011538771.1:c.16524del	XP_011537073.1:p.Glu5509ArgfsTer18
XM_011538771.2:c.16524del	XP_011537073.1:p.Glu5509ArgfsTer18
XM_011538772.1:c.16518del	XP_011537074.1:p.Glu5507ArgfsTer18
XM_011538772.2:c.16518del	XP_011537074.1:p.Glu5507ArgfsTer18
XM_011538773.1:c.16515del	XP_011537075.1:p.Glu5506ArgfsTer18
XM_011538773.2:c.16515del	XP_011537075.1:p.Glu5506ArgfsTer18
XM_011538774.1:c.16506del	XP_011537076.1:p.Glu5503ArgfsTer18
XM_011538774.2:c.16506del	XP_011537076.1:p.Glu5503ArgfsTer18
XM_011538775.1:c.16461del	XP_011537077.1:p.Glu5488ArgfsTer18
XM_011538776.1:c.16434del	XP_011537078.1:p.Glu5479ArgfsTer18
XM_011538776.2:c.16434del	XP_011537078.1:p.Glu5479ArgfsTer18
XR_001748874.1:n.16647del