Canonical Allele Identifier: CA2580085719

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026994_49026995insA , CM000674.2:g.49026994_49026995insA	GRCh38
NC_000012.11:g.49420777_49420778insA , CM000674.1:g.49420777_49420778insA	GRCh37
NC_000012.10:g.47707044_47707045insA	NCBI36
NG_027827.1:g.33330_33331insT

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.14971_14972insT MANE Select	NP_003473.3:p.Arg4991LeufsTer16
ENST00000301067.12:c.14971_14972insT MANE Select	ENSP00000301067.7:p.Arg4991LeufsTer16
NM_003482.3:c.14971_14972insT	NP_003473.3:p.Arg4991LeufsTer16
ENST00000301067.11:c.14971_14972insT	ENSP00000301067.7:p.Arg4991LeufsTer16
ENST00000683543.2:c.14971_14972insT	ENSP00000506726.1:p.Arg4991LeufsTer16
ENST00000685024.1:c.96_97insT
ENST00000685166.1:c.14980_14981insT	ENSP00000509386.1:p.Arg4994LeufsTer16
ENST00000688411.1:c.261+808_261+809insT	ENSP00000510146.1:n.261+808_261+809insT
ENST00000691463.1:c.357_358insT	ENSP00000510624.1:p.Gly120TrpfsTer?
ENST00000692637.1:c.14968_14969insT	ENSP00000509666.1:p.Arg4990LeufsTer16
XM_005269162.3:c.14971_14972insT	XP_005269219.1:p.Arg4991LeufsTer16
XM_005269162.4:c.14971_14972insT	XP_005269219.1:p.Arg4991LeufsTer16
XM_006719614.2:c.14980_14981insT	XP_006719677.1:p.Arg4994LeufsTer16
XM_006719614.4:c.14980_14981insT	XP_006719677.1:p.Arg4994LeufsTer16
XM_006719616.2:c.14968_14969insT	XP_006719679.1:p.Arg4990LeufsTer16
XM_006719616.3:c.14968_14969insT	XP_006719679.1:p.Arg4990LeufsTer16
XM_011538770.1:c.14980_14981insT	XP_011537072.1:p.Arg4994LeufsTer16
XM_011538770.2:c.14980_14981insT	XP_011537072.1:p.Arg4994LeufsTer16
XM_011538771.1:c.14977_14978insT	XP_011537073.1:p.Arg4993LeufsTer16
XM_011538771.2:c.14977_14978insT	XP_011537073.1:p.Arg4993LeufsTer16
XM_011538772.1:c.14971_14972insT	XP_011537074.1:p.Arg4991LeufsTer16
XM_011538772.2:c.14971_14972insT	XP_011537074.1:p.Arg4991LeufsTer16
XM_011538773.1:c.14968_14969insT	XP_011537075.1:p.Arg4990LeufsTer16
XM_011538773.2:c.14968_14969insT	XP_011537075.1:p.Arg4990LeufsTer16
XM_011538774.1:c.14959_14960insT	XP_011537076.1:p.Arg4987LeufsTer16
XM_011538774.2:c.14959_14960insT	XP_011537076.1:p.Arg4987LeufsTer16
XM_011538775.1:c.14914_14915insT	XP_011537077.1:p.Arg4972LeufsTer16
XM_011538776.1:c.14887_14888insT	XP_011537078.1:p.Arg4963LeufsTer16
XM_011538776.2:c.14887_14888insT	XP_011537078.1:p.Arg4963LeufsTer16
XR_001748874.1:n.15961+808_15961+809insT
XR_944740.1:n.16972+808_16972+809insT