Canonical Allele Identifier: CA2618609720

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042597-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042600_49042602del , CM000674.2:g.49042600_49042602del	GRCh38
NC_000012.11:g.49436383_49436385del , CM000674.1:g.49436383_49436385del	GRCh37
NC_000012.10:g.47722650_47722652del	NCBI36
NG_027827.1:g.17725_17727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.640_642del
ENST00000683543.2:c.5828_5830del	ENSP00000506726.1:p.Ser1943del
ENST00000685166.1:c.5837_5839del	ENSP00000509386.1:p.Ser1946del
ENST00000688095.1:c.1777_1779del	ENSP00000510007.1:n.1777_1779del
ENST00000692637.1:c.5825_5827del	ENSP00000509666.1:p.Ser1942del
ENST00000301067.12:c.5828_5830del MANE Select	ENSP00000301067.7:p.Ser1943del
ENST00000301067.11:c.5828_5830del	ENSP00000301067.7:p.Ser1943del
NM_003482.3:c.5828_5830del	NP_003473.3:p.Ser1943del
XM_005269162.3:c.5828_5830del	XP_005269219.1:p.Ser1943del
XM_006719614.2:c.5837_5839del	XP_006719677.1:p.Ser1946del
XM_006719616.2:c.5825_5827del	XP_006719679.1:p.Ser1942del
XM_011538770.1:c.5837_5839del	XP_011537072.1:p.Ser1946del
XM_011538771.1:c.5834_5836del	XP_011537073.1:p.Ser1945del
XM_011538772.1:c.5828_5830del	XP_011537074.1:p.Ser1943del
XM_011538773.1:c.5825_5827del	XP_011537075.1:p.Ser1942del
XM_011538774.1:c.5837_5839del	XP_011537076.1:p.Ser1946del
XM_011538775.1:c.5837_5839del	XP_011537077.1:p.Ser1946del
XM_011538776.1:c.5837_5839del	XP_011537078.1:p.Ser1946del
XR_944740.1:n.8157_8159del
XM_005269162.4:c.5828_5830del	XP_005269219.1:p.Ser1943del
XM_006719614.4:c.5837_5839del	XP_006719677.1:p.Ser1946del
XM_006719616.3:c.5825_5827del	XP_006719679.1:p.Ser1942del
XM_011538770.2:c.5837_5839del	XP_011537072.1:p.Ser1946del
XM_011538771.2:c.5834_5836del	XP_011537073.1:p.Ser1945del
XM_011538772.2:c.5828_5830del	XP_011537074.1:p.Ser1943del
XM_011538773.2:c.5825_5827del	XP_011537075.1:p.Ser1942del
XM_011538774.2:c.5837_5839del	XP_011537076.1:p.Ser1946del
XM_011538776.2:c.5837_5839del	XP_011537078.1:p.Ser1946del
XR_001748874.1:n.7146_7148del
NM_003482.4:c.5828_5830del MANE Select	NP_003473.3:p.Ser1943del