Canonical Allele Identifier: CA2034948536

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042734_49042737delinsGTAT , CM000674.2:g.49042734_49042737delinsGTAT	GRCh38
NC_000012.11:g.49436517_49436520delinsGTAT , CM000674.1:g.49436517_49436520delinsGTAT	GRCh37
NC_000012.10:g.47722784_47722787delinsGTAT	NCBI36
NG_027827.1:g.17588_17591delinsATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.594+4_594+7delinsATAC
ENST00000683543.2:c.5782+4_5782+7delinsATAC	ENSP00000506726.1:n.5782+4_5782+7delinsATAC
ENST00000685166.1:c.5791+4_5791+7delinsATAC	ENSP00000509386.1:n.5791+4_5791+7delinsATAC
ENST00000688095.1:c.1731+4_1731+7delinsATAC	ENSP00000510007.1:n.1731+4_1731+7delinsATAC
ENST00000692637.1:c.5779+4_5779+7delinsATAC	ENSP00000509666.1:n.5779+4_5779+7delinsATAC
ENST00000301067.12:c.5782+4_5782+7delinsATAC MANE Select	ENSP00000301067.7:n.5782+4_5782+7delinsATAC
ENST00000301067.11:c.5782+4_5782+7delinsATAC	ENSP00000301067.7:n.5782+4_5782+7delinsATAC
NM_003482.3:c.5782+4_5782+7delinsATAC	NP_003473.3:n.5782+4_5782+7delinsATAC
XM_005269162.3:c.5782+4_5782+7delinsATAC	XP_005269219.1:n.5782+4_5782+7delinsATAC
XM_006719614.2:c.5791+4_5791+7delinsATAC	XP_006719677.1:n.5791+4_5791+7delinsATAC
XM_006719616.2:c.5779+4_5779+7delinsATAC	XP_006719679.1:n.5779+4_5779+7delinsATAC
XM_011538770.1:c.5791+4_5791+7delinsATAC	XP_011537072.1:n.5791+4_5791+7delinsATAC
XM_011538771.1:c.5788+4_5788+7delinsATAC	XP_011537073.1:n.5788+4_5788+7delinsATAC
XM_011538772.1:c.5782+4_5782+7delinsATAC	XP_011537074.1:n.5782+4_5782+7delinsATAC
XM_011538773.1:c.5779+4_5779+7delinsATAC	XP_011537075.1:n.5779+4_5779+7delinsATAC
XM_011538774.1:c.5791+4_5791+7delinsATAC	XP_011537076.1:n.5791+4_5791+7delinsATAC
XM_011538775.1:c.5791+4_5791+7delinsATAC	XP_011537077.1:n.5791+4_5791+7delinsATAC
XM_011538776.1:c.5791+4_5791+7delinsATAC	XP_011537078.1:n.5791+4_5791+7delinsATAC
XR_944740.1:n.8111+4_8111+7delinsATAC
XM_005269162.4:c.5782+4_5782+7delinsATAC	XP_005269219.1:n.5782+4_5782+7delinsATAC
XM_006719614.4:c.5791+4_5791+7delinsATAC	XP_006719677.1:n.5791+4_5791+7delinsATAC
XM_006719616.3:c.5779+4_5779+7delinsATAC	XP_006719679.1:n.5779+4_5779+7delinsATAC
XM_011538770.2:c.5791+4_5791+7delinsATAC	XP_011537072.1:n.5791+4_5791+7delinsATAC
XM_011538771.2:c.5788+4_5788+7delinsATAC	XP_011537073.1:n.5788+4_5788+7delinsATAC
XM_011538772.2:c.5782+4_5782+7delinsATAC	XP_011537074.1:n.5782+4_5782+7delinsATAC
XM_011538773.2:c.5779+4_5779+7delinsATAC	XP_011537075.1:n.5779+4_5779+7delinsATAC
XM_011538774.2:c.5791+4_5791+7delinsATAC	XP_011537076.1:n.5791+4_5791+7delinsATAC
XM_011538776.2:c.5791+4_5791+7delinsATAC	XP_011537078.1:n.5791+4_5791+7delinsATAC
XR_001748874.1:n.7100+4_7100+7delinsATAC
NM_003482.4:c.5782+4_5782+7delinsATAC MANE Select	NP_003473.3:n.5782+4_5782+7delinsATAC