Canonical Allele Identifier: CA912996214

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418610_49418612del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024827_49024829del , CM000674.2:g.49024827_49024829del	GRCh38
NC_000012.11:g.49418610_49418612del , CM000674.1:g.49418610_49418612del	GRCh37
NC_000012.10:g.47704877_47704879del	NCBI36
NG_027827.1:g.35497_35499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.575_577del
ENST00000683543.2:c.15903_15905del	ENSP00000506726.1:p.Leu5302del
ENST00000683863.1:n.1618_1620del
ENST00000684428.1:c.438_440del	ENSP00000507433.1:p.Leu147del
ENST00000684755.1:n.438_440del
ENST00000685024.1:c.1028_1030del
ENST00000685166.1:c.15912_15914del	ENSP00000509386.1:p.Leu5305del
ENST00000688411.1:c.380_382del	ENSP00000510146.1:n.380_382del
ENST00000691463.1:c.1289_1291del	ENSP00000510624.1:n.1289_1291del
ENST00000692637.1:c.15900_15902del	ENSP00000509666.1:p.Leu5301del
ENST00000301067.12:c.15903_15905del MANE Select	ENSP00000301067.7:p.Leu5302del
ENST00000301067.11:c.15903_15905del	ENSP00000301067.7:p.Leu5302del
NM_003482.3:c.15903_15905del	NP_003473.3:p.Leu5302del
XM_005269162.3:c.15903_15905del	XP_005269219.1:p.Leu5302del
XM_006719614.2:c.15912_15914del	XP_006719677.1:p.Leu5305del
XM_006719616.2:c.15900_15902del	XP_006719679.1:p.Leu5301del
XM_011538770.1:c.15912_15914del	XP_011537072.1:p.Leu5305del
XM_011538771.1:c.15909_15911del	XP_011537073.1:p.Leu5304del
XM_011538772.1:c.15903_15905del	XP_011537074.1:p.Leu5302del
XM_011538773.1:c.15900_15902del	XP_011537075.1:p.Leu5301del
XM_011538774.1:c.15891_15893del	XP_011537076.1:p.Leu5298del
XM_011538775.1:c.15846_15848del	XP_011537077.1:p.Leu5283del
XM_011538776.1:c.15819_15821del	XP_011537078.1:p.Leu5274del
XR_944740.1:n.17091_17093del
XM_005269162.4:c.15903_15905del	XP_005269219.1:p.Leu5302del
XM_006719614.4:c.15912_15914del	XP_006719677.1:p.Leu5305del
XM_006719616.3:c.15900_15902del	XP_006719679.1:p.Leu5301del
XM_011538770.2:c.15912_15914del	XP_011537072.1:p.Leu5305del
XM_011538771.2:c.15909_15911del	XP_011537073.1:p.Leu5304del
XM_011538772.2:c.15903_15905del	XP_011537074.1:p.Leu5302del
XM_011538773.2:c.15900_15902del	XP_011537075.1:p.Leu5301del
XM_011538774.2:c.15891_15893del	XP_011537076.1:p.Leu5298del
XM_011538776.2:c.15819_15821del	XP_011537078.1:p.Leu5274del
XR_001748874.1:n.16080_16082del
NM_003482.4:c.15903_15905del MANE Select	NP_003473.3:p.Leu5302del