Canonical Allele Identifier: CA2034964152

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024782_49024783delinsGC , CM000674.2:g.49024782_49024783delinsGC	GRCh38
NC_000012.11:g.49418565_49418566delinsGC , CM000674.1:g.49418565_49418566delinsGC	GRCh37
NC_000012.10:g.47704832_47704833delinsGC	NCBI36
NG_027827.1:g.35542_35543delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.593+27_593+28delinsGC
ENST00000683543.2:c.15921+27_15921+28delinsGC	ENSP00000506726.1:n.15921+27_15921+28delinsGC
ENST00000683863.1:n.1636+27_1636+28delinsGC
ENST00000684428.1:c.456+27_456+28delinsGC	ENSP00000507433.1:n.456+27_456+28delinsGC
ENST00000684755.1:n.456+27_456+28delinsGC
ENST00000685024.1:c.1046+27_1046+28delinsGC
ENST00000685166.1:c.15930+27_15930+28delinsGC	ENSP00000509386.1:n.15930+27_15930+28delinsGC
ENST00000688411.1:c.398+27_398+28delinsGC	ENSP00000510146.1:n.398+27_398+28delinsGC
ENST00000692637.1:c.15918+27_15918+28delinsGC	ENSP00000509666.1:n.15918+27_15918+28delinsGC
ENST00000301067.12:c.15921+27_15921+28delinsGC MANE Select	ENSP00000301067.7:n.15921+27_15921+28delinsGC
ENST00000301067.11:c.15921+27_15921+28delinsGC	ENSP00000301067.7:n.15921+27_15921+28delinsGC
NM_003482.3:c.15921+27_15921+28delinsGC	NP_003473.3:n.15921+27_15921+28delinsGC
XM_005269162.3:c.15921+27_15921+28delinsGC	XP_005269219.1:n.15921+27_15921+28delinsGC
XM_006719614.2:c.15930+27_15930+28delinsGC	XP_006719677.1:n.15930+27_15930+28delinsGC
XM_006719616.2:c.15918+27_15918+28delinsGC	XP_006719679.1:n.15918+27_15918+28delinsGC
XM_011538770.1:c.15930+27_15930+28delinsGC	XP_011537072.1:n.15930+27_15930+28delinsGC
XM_011538771.1:c.15927+27_15927+28delinsGC	XP_011537073.1:n.15927+27_15927+28delinsGC
XM_011538772.1:c.15921+27_15921+28delinsGC	XP_011537074.1:n.15921+27_15921+28delinsGC
XM_011538773.1:c.15918+27_15918+28delinsGC	XP_011537075.1:n.15918+27_15918+28delinsGC
XM_011538774.1:c.15909+27_15909+28delinsGC	XP_011537076.1:n.15909+27_15909+28delinsGC
XM_011538775.1:c.15864+27_15864+28delinsGC	XP_011537077.1:n.15864+27_15864+28delinsGC
XM_011538776.1:c.15837+27_15837+28delinsGC	XP_011537078.1:n.15837+27_15837+28delinsGC
XR_944740.1:n.17109+27_17109+28delinsGC
XM_005269162.4:c.15921+27_15921+28delinsGC	XP_005269219.1:n.15921+27_15921+28delinsGC
XM_006719614.4:c.15930+27_15930+28delinsGC	XP_006719677.1:n.15930+27_15930+28delinsGC
XM_006719616.3:c.15918+27_15918+28delinsGC	XP_006719679.1:n.15918+27_15918+28delinsGC
XM_011538770.2:c.15930+27_15930+28delinsGC	XP_011537072.1:n.15930+27_15930+28delinsGC
XM_011538771.2:c.15927+27_15927+28delinsGC	XP_011537073.1:n.15927+27_15927+28delinsGC
XM_011538772.2:c.15921+27_15921+28delinsGC	XP_011537074.1:n.15921+27_15921+28delinsGC
XM_011538773.2:c.15918+27_15918+28delinsGC	XP_011537075.1:n.15918+27_15918+28delinsGC
XM_011538774.2:c.15909+27_15909+28delinsGC	XP_011537076.1:n.15909+27_15909+28delinsGC
XM_011538776.2:c.15837+27_15837+28delinsGC	XP_011537078.1:n.15837+27_15837+28delinsGC
XR_001748874.1:n.16098+27_16098+28delinsGC
NM_003482.4:c.15921+27_15921+28delinsGC MANE Select	NP_003473.3:n.15921+27_15921+28delinsGC