Canonical Allele Identifier: CA2034947803

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042070_49042071delinsGC , CM000674.2:g.49042070_49042071delinsGC	GRCh38
NC_000012.11:g.49435853_49435854delinsGC , CM000674.1:g.49435853_49435854delinsGC	GRCh37
NC_000012.10:g.47722120_47722121delinsGC	NCBI36
NG_027827.1:g.18254_18255delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.900+18_900+19delinsGC
ENST00000683543.2:c.6109+18_6109+19delinsGC	ENSP00000506726.1:n.6109+18_6109+19delinsGC
ENST00000685166.1:c.6118+18_6118+19delinsGC	ENSP00000509386.1:n.6118+18_6118+19delinsGC
ENST00000689060.1:c.221+18_221+19delinsGC
ENST00000689944.1:c.221+18_221+19delinsGC
ENST00000692637.1:c.6106+18_6106+19delinsGC	ENSP00000509666.1:n.6106+18_6106+19delinsGC
ENST00000301067.12:c.6109+18_6109+19delinsGC MANE Select	ENSP00000301067.7:n.6109+18_6109+19delinsGC
ENST00000301067.11:c.6109+18_6109+19delinsGC	ENSP00000301067.7:n.6109+18_6109+19delinsGC
NM_003482.3:c.6109+18_6109+19delinsGC	NP_003473.3:n.6109+18_6109+19delinsGC
XM_005269162.3:c.6109+18_6109+19delinsGC	XP_005269219.1:n.6109+18_6109+19delinsGC
XM_006719614.2:c.6118+18_6118+19delinsGC	XP_006719677.1:n.6118+18_6118+19delinsGC
XM_006719616.2:c.6106+18_6106+19delinsGC	XP_006719679.1:n.6106+18_6106+19delinsGC
XM_011538770.1:c.6118+18_6118+19delinsGC	XP_011537072.1:n.6118+18_6118+19delinsGC
XM_011538771.1:c.6115+18_6115+19delinsGC	XP_011537073.1:n.6115+18_6115+19delinsGC
XM_011538772.1:c.6109+18_6109+19delinsGC	XP_011537074.1:n.6109+18_6109+19delinsGC
XM_011538773.1:c.6106+18_6106+19delinsGC	XP_011537075.1:n.6106+18_6106+19delinsGC
XM_011538774.1:c.6097+18_6097+19delinsGC	XP_011537076.1:n.6097+18_6097+19delinsGC
XM_011538775.1:c.6118+18_6118+19delinsGC	XP_011537077.1:n.6118+18_6118+19delinsGC
XM_011538776.1:c.6118+18_6118+19delinsGC	XP_011537078.1:n.6118+18_6118+19delinsGC
XR_944740.1:n.8438+18_8438+19delinsGC
XM_005269162.4:c.6109+18_6109+19delinsGC	XP_005269219.1:n.6109+18_6109+19delinsGC
XM_006719614.4:c.6118+18_6118+19delinsGC	XP_006719677.1:n.6118+18_6118+19delinsGC
XM_006719616.3:c.6106+18_6106+19delinsGC	XP_006719679.1:n.6106+18_6106+19delinsGC
XM_011538770.2:c.6118+18_6118+19delinsGC	XP_011537072.1:n.6118+18_6118+19delinsGC
XM_011538771.2:c.6115+18_6115+19delinsGC	XP_011537073.1:n.6115+18_6115+19delinsGC
XM_011538772.2:c.6109+18_6109+19delinsGC	XP_011537074.1:n.6109+18_6109+19delinsGC
XM_011538773.2:c.6106+18_6106+19delinsGC	XP_011537075.1:n.6106+18_6106+19delinsGC
XM_011538774.2:c.6097+18_6097+19delinsGC	XP_011537076.1:n.6097+18_6097+19delinsGC
XM_011538776.2:c.6118+18_6118+19delinsGC	XP_011537078.1:n.6118+18_6118+19delinsGC
XR_001748874.1:n.7427+18_7427+19delinsGC
NM_003482.4:c.6109+18_6109+19delinsGC MANE Select	NP_003473.3:n.6109+18_6109+19delinsGC