Canonical Allele Identifier: CA2034963279

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022570_49022571delinsGC , CM000674.2:g.49022570_49022571delinsGC	GRCh38
NC_000012.11:g.49416353_49416354delinsGC , CM000674.1:g.49416353_49416354delinsGC	GRCh37
NC_000012.10:g.47702620_47702621delinsGC	NCBI36
NG_027827.1:g.37754_37755delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.308+19_308+20delinsGC
ENST00000681974.1:n.1010+19_1010+20delinsGC
ENST00000682693.1:n.1972+19_1972+20delinsGC
ENST00000682886.1:n.527_528delinsGC
ENST00000683543.2:c.16386+19_16386+20delinsGC	ENSP00000506726.1:n.16386+19_16386+20delinsGC
ENST00000683988.1:c.309+19_309+20delinsGC	ENSP00000506939.1:n.309+19_309+20delinsGC
ENST00000684428.1:c.873+19_873+20delinsGC	ENSP00000507433.1:n.873+19_873+20delinsGC
ENST00000684755.1:n.940_941delinsGC
ENST00000685024.1:c.1492+19_1492+20delinsGC
ENST00000685166.1:c.16347+19_16347+20delinsGC	ENSP00000509386.1:n.16347+19_16347+20delinsGC
ENST00000691932.1:c.339+19_339+20delinsGC	ENSP00000509037.1:n.339+19_339+20delinsGC
ENST00000692637.1:c.16335+19_16335+20delinsGC	ENSP00000509666.1:n.16335+19_16335+20delinsGC
ENST00000301067.12:c.16338+19_16338+20delinsGC MANE Select	ENSP00000301067.7:n.16338+19_16338+20delinsGC
ENST00000301067.11:c.16338+19_16338+20delinsGC	ENSP00000301067.7:n.16338+19_16338+20delinsGC
ENST00000526209.1:c.381+19_381+20delinsGC	ENSP00000435714.1:n.381+19_381+20delinsGC
NM_003482.3:c.16338+19_16338+20delinsGC	NP_003473.3:n.16338+19_16338+20delinsGC
XM_005269162.3:c.16338+19_16338+20delinsGC	XP_005269219.1:n.16338+19_16338+20delinsGC
XM_006719614.2:c.16347+19_16347+20delinsGC	XP_006719677.1:n.16347+19_16347+20delinsGC
XM_006719616.2:c.16335+19_16335+20delinsGC	XP_006719679.1:n.16335+19_16335+20delinsGC
XM_011538770.1:c.16395+19_16395+20delinsGC	XP_011537072.1:n.16395+19_16395+20delinsGC
XM_011538771.1:c.16392+19_16392+20delinsGC	XP_011537073.1:n.16392+19_16392+20delinsGC
XM_011538772.1:c.16386+19_16386+20delinsGC	XP_011537074.1:n.16386+19_16386+20delinsGC
XM_011538773.1:c.16383+19_16383+20delinsGC	XP_011537075.1:n.16383+19_16383+20delinsGC
XM_011538774.1:c.16374+19_16374+20delinsGC	XP_011537076.1:n.16374+19_16374+20delinsGC
XM_011538775.1:c.16329+19_16329+20delinsGC	XP_011537077.1:n.16329+19_16329+20delinsGC
XM_011538776.1:c.16302+19_16302+20delinsGC	XP_011537078.1:n.16302+19_16302+20delinsGC
XM_005269162.4:c.16338+19_16338+20delinsGC	XP_005269219.1:n.16338+19_16338+20delinsGC
XM_006719614.4:c.16347+19_16347+20delinsGC	XP_006719677.1:n.16347+19_16347+20delinsGC
XM_006719616.3:c.16335+19_16335+20delinsGC	XP_006719679.1:n.16335+19_16335+20delinsGC
XM_011538770.2:c.16395+19_16395+20delinsGC	XP_011537072.1:n.16395+19_16395+20delinsGC
XM_011538771.2:c.16392+19_16392+20delinsGC	XP_011537073.1:n.16392+19_16392+20delinsGC
XM_011538772.2:c.16386+19_16386+20delinsGC	XP_011537074.1:n.16386+19_16386+20delinsGC
XM_011538773.2:c.16383+19_16383+20delinsGC	XP_011537075.1:n.16383+19_16383+20delinsGC
XM_011538774.2:c.16374+19_16374+20delinsGC	XP_011537076.1:n.16374+19_16374+20delinsGC
XM_011538776.2:c.16302+19_16302+20delinsGC	XP_011537078.1:n.16302+19_16302+20delinsGC
XR_001748874.1:n.16515+19_16515+20delinsGC
NM_003482.4:c.16338+19_16338+20delinsGC MANE Select	NP_003473.3:n.16338+19_16338+20delinsGC