Canonical Allele Identifier: CA2726328083

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710580

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024626_49024627insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA , CM000674.2:g.49024626_49024627insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA	GRCh38
NC_000012.11:g.49418409_49418410insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA , CM000674.1:g.49418409_49418410insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA	GRCh37
NC_000012.10:g.47704676_47704677insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA	NCBI36
NG_027827.1:g.35698_35699insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.675_676insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT
ENST00000683543.2:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000506726.1:p.Pro5335LeufsTer?
ENST00000683863.1:n.1718_1719insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT
ENST00000684428.1:c.538_539insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000507433.1:p.Pro180LeufsTer33
ENST00000684755.1:n.538_539insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT
ENST00000685024.1:c.1157_1158insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT
ENST00000685166.1:c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000509386.1:p.Pro5338LeufsTer33
ENST00000688411.1:c.480_481insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000510146.1:n.480_481insTAATTAGGAAG...
ENST00000691932.1:c.82_83insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000509037.1:p.Pro28LeufsTer?
ENST00000692637.1:c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000509666.1:p.Pro5334LeufsTer33
ENST00000301067.12:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT MANE Select	ENSP00000301067.7:p.Pro5335LeufsTer33
ENST00000301067.11:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	ENSP00000301067.7:p.Pro5335LeufsTer33
NM_003482.3:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	NP_003473.3:p.Pro5335LeufsTer33
XM_005269162.3:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_005269219.1:p.Pro5335LeufsTer33
XM_006719614.2:c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_006719677.1:p.Pro5338LeufsTer33
XM_006719616.2:c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_006719679.1:p.Pro5334LeufsTer33
XM_011538770.1:c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537072.1:p.Pro5338LeufsTer?
XM_011538771.1:c.16009_16010insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537073.1:p.Pro5337LeufsTer?
XM_011538772.1:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537074.1:p.Pro5335LeufsTer?
XM_011538773.1:c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537075.1:p.Pro5334LeufsTer?
XM_011538774.1:c.15991_15992insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537076.1:p.Pro5331LeufsTer?
XM_011538775.1:c.15946_15947insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537077.1:p.Pro5316LeufsTer?
XM_011538776.1:c.15919_15920insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537078.1:p.Pro5307LeufsTer?
XM_005269162.4:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_005269219.1:p.Pro5335LeufsTer33
XM_006719614.4:c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_006719677.1:p.Pro5338LeufsTer33
XM_006719616.3:c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_006719679.1:p.Pro5334LeufsTer33
XM_011538770.2:c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537072.1:p.Pro5338LeufsTer?
XM_011538771.2:c.16009_16010insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537073.1:p.Pro5337LeufsTer?
XM_011538772.2:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537074.1:p.Pro5335LeufsTer?
XM_011538773.2:c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537075.1:p.Pro5334LeufsTer?
XM_011538774.2:c.15991_15992insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537076.1:p.Pro5331LeufsTer?
XM_011538776.2:c.15919_15920insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT	XP_011537078.1:p.Pro5307LeufsTer?
XR_001748874.1:n.16180_16181insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT
NM_003482.4:c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT MANE Select	NP_003473.3:p.Pro5335LeufsTer33