Canonical Allele Identifier: CA2695216769

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030937_49030941dup , CM000674.2:g.49030937_49030941dup	GRCh38
NC_000012.11:g.49424720_49424724dup , CM000674.1:g.49424720_49424724dup	GRCh37
NC_000012.10:g.47710987_47710991dup	NCBI36
NG_027827.1:g.29384_29388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.323_327dup
ENST00000683543.2:c.13623_13627dup	ENSP00000506726.1:p.Asp4543GlyfsTer12
ENST00000685166.1:c.13632_13636dup	ENSP00000509386.1:p.Asp4546GlyfsTer12
ENST00000685982.1:c.139-173_139-169dup	ENSP00000508613.1:n.139-173_139-169dup
ENST00000691986.1:c.138+234_138+238dup	ENSP00000509196.1:n.138+234_138+238dup
ENST00000692637.1:c.13620_13624dup	ENSP00000509666.1:p.Asp4542GlyfsTer12
ENST00000692973.1:c.224_228dup	ENSP00000508893.1:n.224_228dup
ENST00000301067.12:c.13623_13627dup MANE Select	ENSP00000301067.7:p.Asp4543GlyfsTer12
ENST00000301067.11:c.13623_13627dup	ENSP00000301067.7:p.Asp4543GlyfsTer12
ENST00000552391.1:n.323_327dup
NM_003482.3:c.13623_13627dup	NP_003473.3:p.Asp4543GlyfsTer12
XM_005269162.3:c.13623_13627dup	XP_005269219.1:p.Asp4543GlyfsTer12
XM_006719614.2:c.13632_13636dup	XP_006719677.1:p.Asp4546GlyfsTer12
XM_006719616.2:c.13620_13624dup	XP_006719679.1:p.Asp4542GlyfsTer12
XM_011538770.1:c.13632_13636dup	XP_011537072.1:p.Asp4546GlyfsTer12
XM_011538771.1:c.13629_13633dup	XP_011537073.1:p.Asp4545GlyfsTer12
XM_011538772.1:c.13623_13627dup	XP_011537074.1:p.Asp4543GlyfsTer12
XM_011538773.1:c.13620_13624dup	XP_011537075.1:p.Asp4542GlyfsTer12
XM_011538774.1:c.13611_13615dup	XP_011537076.1:p.Asp4539GlyfsTer12
XM_011538775.1:c.13632_13636dup	XP_011537077.1:p.Asp4546GlyfsTer12
XM_011538776.1:c.13539_13543dup	XP_011537078.1:p.Asp4515GlyfsTer12
XR_944740.1:n.15952_15956dup
XM_005269162.4:c.13623_13627dup	XP_005269219.1:p.Asp4543GlyfsTer12
XM_006719614.4:c.13632_13636dup	XP_006719677.1:p.Asp4546GlyfsTer12
XM_006719616.3:c.13620_13624dup	XP_006719679.1:p.Asp4542GlyfsTer12
XM_011538770.2:c.13632_13636dup	XP_011537072.1:p.Asp4546GlyfsTer12
XM_011538771.2:c.13629_13633dup	XP_011537073.1:p.Asp4545GlyfsTer12
XM_011538772.2:c.13623_13627dup	XP_011537074.1:p.Asp4543GlyfsTer12
XM_011538773.2:c.13620_13624dup	XP_011537075.1:p.Asp4542GlyfsTer12
XM_011538774.2:c.13611_13615dup	XP_011537076.1:p.Asp4539GlyfsTer12
XM_011538776.2:c.13539_13543dup	XP_011537078.1:p.Asp4515GlyfsTer12
XR_001748874.1:n.14941_14945dup
NM_003482.4:c.13623_13627dup MANE Select	NP_003473.3:p.Asp4543GlyfsTer12