Canonical Allele Identifier: CA2542571277

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039370_49039371insG , CM000674.2:g.49039370_49039371insG	GRCh38
NC_000012.11:g.49433153_49433154insG , CM000674.1:g.49433153_49433154insG	GRCh37
NC_000012.10:g.47719420_47719421insG	NCBI36
NG_027827.1:g.20954_20955insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8230-13_8230-12insC	ENSP00000506726.1:n.8230-13_8230-12insC
ENST00000685166.1:c.8239-13_8239-12insC	ENSP00000509386.1:n.8239-13_8239-12insC
ENST00000689060.1:c.2249-13_2249-12insC
ENST00000689143.1:c.1903-13_1903-12insC	ENSP00000509839.1:n.1903-13_1903-12insC
ENST00000689944.1:c.2339-13_2339-12insC
ENST00000692637.1:c.8227-13_8227-12insC	ENSP00000509666.1:n.8227-13_8227-12insC
ENST00000301067.12:c.8230-13_8230-12insC MANE Select	ENSP00000301067.7:n.8230-13_8230-12insC
ENST00000301067.11:c.8230-13_8230-12insC	ENSP00000301067.7:n.8230-13_8230-12insC
NM_003482.3:c.8230-13_8230-12insC	NP_003473.3:n.8230-13_8230-12insC
XM_005269162.3:c.8230-13_8230-12insC	XP_005269219.1:n.8230-13_8230-12insC
XM_006719614.2:c.8239-13_8239-12insC	XP_006719677.1:n.8239-13_8239-12insC
XM_006719616.2:c.8227-13_8227-12insC	XP_006719679.1:n.8227-13_8227-12insC
XM_011538770.1:c.8239-13_8239-12insC	XP_011537072.1:n.8239-13_8239-12insC
XM_011538771.1:c.8236-13_8236-12insC	XP_011537073.1:n.8236-13_8236-12insC
XM_011538772.1:c.8230-13_8230-12insC	XP_011537074.1:n.8230-13_8230-12insC
XM_011538773.1:c.8227-13_8227-12insC	XP_011537075.1:n.8227-13_8227-12insC
XM_011538774.1:c.8218-13_8218-12insC	XP_011537076.1:n.8218-13_8218-12insC
XM_011538775.1:c.8239-13_8239-12insC	XP_011537077.1:n.8239-13_8239-12insC
XM_011538776.1:c.8146-13_8146-12insC	XP_011537078.1:n.8146-13_8146-12insC
XR_944740.1:n.10559-13_10559-12insC
XM_005269162.4:c.8230-13_8230-12insC	XP_005269219.1:n.8230-13_8230-12insC
XM_006719614.4:c.8239-13_8239-12insC	XP_006719677.1:n.8239-13_8239-12insC
XM_006719616.3:c.8227-13_8227-12insC	XP_006719679.1:n.8227-13_8227-12insC
XM_011538770.2:c.8239-13_8239-12insC	XP_011537072.1:n.8239-13_8239-12insC
XM_011538771.2:c.8236-13_8236-12insC	XP_011537073.1:n.8236-13_8236-12insC
XM_011538772.2:c.8230-13_8230-12insC	XP_011537074.1:n.8230-13_8230-12insC
XM_011538773.2:c.8227-13_8227-12insC	XP_011537075.1:n.8227-13_8227-12insC
XM_011538774.2:c.8218-13_8218-12insC	XP_011537076.1:n.8218-13_8218-12insC
XM_011538776.2:c.8146-13_8146-12insC	XP_011537078.1:n.8146-13_8146-12insC
XR_001748874.1:n.9548-13_9548-12insC
NM_003482.4:c.8230-13_8230-12insC MANE Select	NP_003473.3:n.8230-13_8230-12insC