Canonical Allele Identifier: CA2695216335

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022091del , CM000674.2:g.49022091del	GRCh38
NC_000012.11:g.49415874del , CM000674.1:g.49415874del	GRCh37
NC_000012.10:g.47702141del	NCBI36
NG_027827.1:g.38235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.444del
ENST00000681974.1:n.1146del
ENST00000682693.1:n.2108del
ENST00000682886.1:n.880del
ENST00000683543.2:c.16522del	ENSP00000506726.1:p.Asp5508ThrfsTer17
ENST00000683988.1:c.445del	ENSP00000506939.1:p.Asp149ThrfsTer17
ENST00000684428.1:c.1067del	ENSP00000507433.1:n.1067del
ENST00000685024.1:c.1628del
ENST00000685166.1:c.16483del	ENSP00000509386.1:p.Asp5495ThrfsTer17
ENST00000691932.1:c.475del	ENSP00000509037.1:p.Asp159ThrfsTer17
ENST00000692637.1:c.16471del	ENSP00000509666.1:p.Asp5491ThrfsTer17
ENST00000301067.12:c.16474del MANE Select	ENSP00000301067.7:p.Asp5492ThrfsTer17
ENST00000301067.11:c.16474del	ENSP00000301067.7:p.Asp5492ThrfsTer17
ENST00000526209.1:c.517del	ENSP00000435714.1:p.Asp173ThrfsTer17
NM_003482.3:c.16474del	NP_003473.3:p.Asp5492ThrfsTer17
XM_005269162.3:c.16474del	XP_005269219.1:p.Asp5492ThrfsTer17
XM_006719614.2:c.16483del	XP_006719677.1:p.Asp5495ThrfsTer17
XM_006719616.2:c.16471del	XP_006719679.1:p.Asp5491ThrfsTer17
XM_011538770.1:c.16531del	XP_011537072.1:p.Asp5511ThrfsTer17
XM_011538771.1:c.16528del	XP_011537073.1:p.Asp5510ThrfsTer17
XM_011538772.1:c.16522del	XP_011537074.1:p.Asp5508ThrfsTer17
XM_011538773.1:c.16519del	XP_011537075.1:p.Asp5507ThrfsTer17
XM_011538774.1:c.16510del	XP_011537076.1:p.Asp5504ThrfsTer17
XM_011538775.1:c.16465del	XP_011537077.1:p.Asp5489ThrfsTer17
XM_011538776.1:c.16438del	XP_011537078.1:p.Asp5480ThrfsTer17
XM_005269162.4:c.16474del	XP_005269219.1:p.Asp5492ThrfsTer17
XM_006719614.4:c.16483del	XP_006719677.1:p.Asp5495ThrfsTer17
XM_006719616.3:c.16471del	XP_006719679.1:p.Asp5491ThrfsTer17
XM_011538770.2:c.16531del	XP_011537072.1:p.Asp5511ThrfsTer17
XM_011538771.2:c.16528del	XP_011537073.1:p.Asp5510ThrfsTer17
XM_011538772.2:c.16522del	XP_011537074.1:p.Asp5508ThrfsTer17
XM_011538773.2:c.16519del	XP_011537075.1:p.Asp5507ThrfsTer17
XM_011538774.2:c.16510del	XP_011537076.1:p.Asp5504ThrfsTer17
XM_011538776.2:c.16438del	XP_011537078.1:p.Asp5480ThrfsTer17
XR_001748874.1:n.16651del
NM_003482.4:c.16474del MANE Select	NP_003473.3:p.Asp5492ThrfsTer17