Canonical Allele Identifier: CA2034945493

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030903_49030912delinsTGTTTCAGCA , CM000674.2:g.49030903_49030912delinsTGTTTCAGCA	GRCh38
NC_000012.11:g.49424686_49424695delinsTGTTTCAGCA , CM000674.1:g.49424686_49424695delinsTGTTTCAGCA	GRCh37
NC_000012.10:g.47710953_47710962delinsTGTTTCAGCA	NCBI36
NG_027827.1:g.29413_29422delinsTGCTGAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.352_361delinsTGCTGAAACA
ENST00000683543.2:c.13652_13661delinsTGCTGAAACA	ENSP00000506726.1:p.Leu4551=
ENST00000685166.1:c.13661_13670delinsTGCTGAAACA	ENSP00000509386.1:p.Leu4554=
ENST00000685982.1:c.139-144_139-135delinsTGCTGAAACA	ENSP00000508613.1:n.139-144_139-135delinsTGCTGAAACA
ENST00000691986.1:c.138+263_138+272delinsTGCTGAAACA	ENSP00000509196.1:n.138+263_138+272delinsTGCTGAAACA
ENST00000692637.1:c.13649_13658delinsTGCTGAAACA	ENSP00000509666.1:p.Leu4550=
ENST00000692973.1:c.253_262delinsTGCTGAAACA	ENSP00000508893.1:n.253_262delinsTGCTGAAACA
ENST00000301067.12:c.13652_13661delinsTGCTGAAACA MANE Select	ENSP00000301067.7:p.Leu4551=
ENST00000301067.11:c.13652_13661delinsTGCTGAAACA	ENSP00000301067.7:p.Leu4551=
ENST00000552391.1:n.352_361delinsTGCTGAAACA
NM_003482.3:c.13652_13661delinsTGCTGAAACA	NP_003473.3:p.Leu4551=
XM_005269162.3:c.13652_13661delinsTGCTGAAACA	XP_005269219.1:p.Leu4551=
XM_006719614.2:c.13661_13670delinsTGCTGAAACA	XP_006719677.1:p.Leu4554=
XM_006719616.2:c.13649_13658delinsTGCTGAAACA	XP_006719679.1:p.Leu4550=
XM_011538770.1:c.13661_13670delinsTGCTGAAACA	XP_011537072.1:p.Leu4554=
XM_011538771.1:c.13658_13667delinsTGCTGAAACA	XP_011537073.1:p.Leu4553=
XM_011538772.1:c.13652_13661delinsTGCTGAAACA	XP_011537074.1:p.Leu4551=
XM_011538773.1:c.13649_13658delinsTGCTGAAACA	XP_011537075.1:p.Leu4550=
XM_011538774.1:c.13640_13649delinsTGCTGAAACA	XP_011537076.1:p.Leu4547=
XM_011538775.1:c.13661_13670delinsTGCTGAAACA	XP_011537077.1:p.Leu4554=
XM_011538776.1:c.13568_13577delinsTGCTGAAACA	XP_011537078.1:p.Leu4523=
XR_944740.1:n.15981_15990delinsTGCTGAAACA
XM_005269162.4:c.13652_13661delinsTGCTGAAACA	XP_005269219.1:p.Leu4551=
XM_006719614.4:c.13661_13670delinsTGCTGAAACA	XP_006719677.1:p.Leu4554=
XM_006719616.3:c.13649_13658delinsTGCTGAAACA	XP_006719679.1:p.Leu4550=
XM_011538770.2:c.13661_13670delinsTGCTGAAACA	XP_011537072.1:p.Leu4554=
XM_011538771.2:c.13658_13667delinsTGCTGAAACA	XP_011537073.1:p.Leu4553=
XM_011538772.2:c.13652_13661delinsTGCTGAAACA	XP_011537074.1:p.Leu4551=
XM_011538773.2:c.13649_13658delinsTGCTGAAACA	XP_011537075.1:p.Leu4550=
XM_011538774.2:c.13640_13649delinsTGCTGAAACA	XP_011537076.1:p.Leu4547=
XM_011538776.2:c.13568_13577delinsTGCTGAAACA	XP_011537078.1:p.Leu4523=
XR_001748874.1:n.14970_14979delinsTGCTGAAACA
NM_003482.4:c.13652_13661delinsTGCTGAAACA MANE Select	NP_003473.3:p.Leu4551=