Canonical Allele Identifier: CA2695216452

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042286del , CM000674.2:g.49042286del	GRCh38
NC_000012.11:g.49436069del , CM000674.1:g.49436069del	GRCh37
NC_000012.10:g.47722336del	NCBI36
NG_027827.1:g.18039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.703del
ENST00000683543.2:c.5912del	ENSP00000506726.1:p.Ser1971ThrfsTer?
ENST00000685166.1:c.5921del	ENSP00000509386.1:p.Ser1974ThrfsTer?
ENST00000689060.1:c.24del
ENST00000689944.1:c.24del
ENST00000692637.1:c.5909del	ENSP00000509666.1:p.Ser1970ThrfsTer?
ENST00000301067.12:c.5912del MANE Select	ENSP00000301067.7:p.Ser1971ThrfsTer?
ENST00000301067.11:c.5912del	ENSP00000301067.7:p.Ser1971ThrfsTer?
NM_003482.3:c.5912del	NP_003473.3:p.Ser1971ThrfsTer?
XM_005269162.3:c.5912del	XP_005269219.1:p.Ser1971ThrfsTer?
XM_006719614.2:c.5921del	XP_006719677.1:p.Ser1974ThrfsTer?
XM_006719616.2:c.5909del	XP_006719679.1:p.Ser1970ThrfsTer?
XM_011538770.1:c.5921del	XP_011537072.1:p.Ser1974ThrfsTer?
XM_011538771.1:c.5918del	XP_011537073.1:p.Ser1973ThrfsTer?
XM_011538772.1:c.5912del	XP_011537074.1:p.Ser1971ThrfsTer?
XM_011538773.1:c.5909del	XP_011537075.1:p.Ser1970ThrfsTer?
XM_011538774.1:c.5900del	XP_011537076.1:p.Ser1967ThrfsTer?
XM_011538775.1:c.5921del	XP_011537077.1:p.Ser1974ThrfsTer?
XM_011538776.1:c.5921del	XP_011537078.1:p.Ser1974ThrfsTer?
XR_944740.1:n.8241del
XM_005269162.4:c.5912del	XP_005269219.1:p.Ser1971ThrfsTer?
XM_006719614.4:c.5921del	XP_006719677.1:p.Ser1974ThrfsTer?
XM_006719616.3:c.5909del	XP_006719679.1:p.Ser1970ThrfsTer?
XM_011538770.2:c.5921del	XP_011537072.1:p.Ser1974ThrfsTer?
XM_011538771.2:c.5918del	XP_011537073.1:p.Ser1973ThrfsTer?
XM_011538772.2:c.5912del	XP_011537074.1:p.Ser1971ThrfsTer?
XM_011538773.2:c.5909del	XP_011537075.1:p.Ser1970ThrfsTer?
XM_011538774.2:c.5900del	XP_011537076.1:p.Ser1967ThrfsTer?
XM_011538776.2:c.5921del	XP_011537078.1:p.Ser1974ThrfsTer?
XR_001748874.1:n.7230del
NM_003482.4:c.5912del MANE Select	NP_003473.3:p.Ser1971ThrfsTer?