Canonical Allele Identifier: CA645594423

Gene: KMT2D

Linked Data

• COSMIC: COSM221148 ; COSM221149

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022114_49022115delinsT , CM000674.2:g.49022114_49022115delinsT	GRCh38
NC_000012.11:g.49415897_49415898delinsT , CM000674.1:g.49415897_49415898delinsT	GRCh37
NC_000012.10:g.47702164_47702165delinsT	NCBI36
NG_027827.1:g.38210_38211delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.419_420delinsA
ENST00000681974.1:n.1121_1122delinsA
ENST00000682693.1:n.2083_2084delinsA
ENST00000682886.1:n.855_856delinsA
ENST00000683543.2:c.16497_16498delinsA	ENSP00000506726.1:p.Glu5500LysfsTer3
ENST00000683988.1:c.420_421delinsA	ENSP00000506939.1:p.Glu141LysfsTer3
ENST00000684428.1:c.1042_1043delinsA	ENSP00000507433.1:n.1042_1043delinsA
ENST00000685024.1:c.1603_1604delinsA
ENST00000685166.1:c.16458_16459delinsA	ENSP00000509386.1:p.Glu5487LysfsTer3
ENST00000691932.1:c.450_451delinsA	ENSP00000509037.1:p.Glu151LysfsTer3
ENST00000692637.1:c.16446_16447delinsA	ENSP00000509666.1:p.Glu5483LysfsTer3
ENST00000301067.12:c.16449_16450delinsA MANE Select	ENSP00000301067.7:p.Glu5484LysfsTer3
ENST00000301067.11:c.16449_16450delinsA	ENSP00000301067.7:p.Glu5484LysfsTer3
ENST00000526209.1:c.492_493delinsA	ENSP00000435714.1:p.Glu165LysfsTer3
NM_003482.3:c.16449_16450delinsA	NP_003473.3:p.Glu5484LysfsTer3
XM_005269162.3:c.16449_16450delinsA	XP_005269219.1:p.Glu5484LysfsTer3
XM_006719614.2:c.16458_16459delinsA	XP_006719677.1:p.Glu5487LysfsTer3
XM_006719616.2:c.16446_16447delinsA	XP_006719679.1:p.Glu5483LysfsTer3
XM_011538770.1:c.16506_16507delinsA	XP_011537072.1:p.Glu5503LysfsTer3
XM_011538771.1:c.16503_16504delinsA	XP_011537073.1:p.Glu5502LysfsTer3
XM_011538772.1:c.16497_16498delinsA	XP_011537074.1:p.Glu5500LysfsTer3
XM_011538773.1:c.16494_16495delinsA	XP_011537075.1:p.Glu5499LysfsTer3
XM_011538774.1:c.16485_16486delinsA	XP_011537076.1:p.Glu5496LysfsTer3
XM_011538775.1:c.16440_16441delinsA	XP_011537077.1:p.Glu5481LysfsTer3
XM_011538776.1:c.16413_16414delinsA	XP_011537078.1:p.Glu5472LysfsTer3
XM_005269162.4:c.16449_16450delinsA	XP_005269219.1:p.Glu5484LysfsTer3
XM_006719614.4:c.16458_16459delinsA	XP_006719677.1:p.Glu5487LysfsTer3
XM_006719616.3:c.16446_16447delinsA	XP_006719679.1:p.Glu5483LysfsTer3
XM_011538770.2:c.16506_16507delinsA	XP_011537072.1:p.Glu5503LysfsTer3
XM_011538771.2:c.16503_16504delinsA	XP_011537073.1:p.Glu5502LysfsTer3
XM_011538772.2:c.16497_16498delinsA	XP_011537074.1:p.Glu5500LysfsTer3
XM_011538773.2:c.16494_16495delinsA	XP_011537075.1:p.Glu5499LysfsTer3
XM_011538774.2:c.16485_16486delinsA	XP_011537076.1:p.Glu5496LysfsTer3
XM_011538776.2:c.16413_16414delinsA	XP_011537078.1:p.Glu5472LysfsTer3
XR_001748874.1:n.16626_16627delinsA
NM_003482.4:c.16449_16450delinsA MANE Select	NP_003473.3:p.Glu5484LysfsTer3