Canonical Allele Identifier: CA2618606255

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49033081-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033084del , CM000674.2:g.49033084del	GRCh38
NC_000012.11:g.49426867del , CM000674.1:g.49426867del	GRCh37
NC_000012.10:g.47713134del	NCBI36
NG_027827.1:g.27243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11623del	ENSP00000506726.1:p.His3875IlefsTer6
ENST00000685166.1:c.11632del	ENSP00000509386.1:p.His3878IlefsTer6
ENST00000685554.1:c.1183del	ENSP00000508640.1:p.His395IlefsTer6
ENST00000687201.1:c.3202del	ENSP00000510037.1:p.His1068IlefsTer6
ENST00000692637.1:c.11620del	ENSP00000509666.1:p.His3874IlefsTer6
ENST00000692841.1:c.3102del	ENSP00000508711.1:n.3102del
ENST00000301067.12:c.11623del MANE Select	ENSP00000301067.7:p.His3875IlefsTer6
ENST00000301067.11:c.11623del	ENSP00000301067.7:p.His3875IlefsTer6
NM_003482.3:c.11623del	NP_003473.3:p.His3875IlefsTer6
XM_005269162.3:c.11623del	XP_005269219.1:p.His3875IlefsTer6
XM_006719614.2:c.11632del	XP_006719677.1:p.His3878IlefsTer6
XM_006719616.2:c.11620del	XP_006719679.1:p.His3874IlefsTer6
XM_011538770.1:c.11632del	XP_011537072.1:p.His3878IlefsTer6
XM_011538771.1:c.11629del	XP_011537073.1:p.His3877IlefsTer6
XM_011538772.1:c.11623del	XP_011537074.1:p.His3875IlefsTer6
XM_011538773.1:c.11620del	XP_011537075.1:p.His3874IlefsTer6
XM_011538774.1:c.11611del	XP_011537076.1:p.His3871IlefsTer6
XM_011538775.1:c.11632del	XP_011537077.1:p.His3878IlefsTer6
XM_011538776.1:c.11539del	XP_011537078.1:p.His3847IlefsTer6
XR_944740.1:n.13952del
XM_005269162.4:c.11623del	XP_005269219.1:p.His3875IlefsTer6
XM_006719614.4:c.11632del	XP_006719677.1:p.His3878IlefsTer6
XM_006719616.3:c.11620del	XP_006719679.1:p.His3874IlefsTer6
XM_011538770.2:c.11632del	XP_011537072.1:p.His3878IlefsTer6
XM_011538771.2:c.11629del	XP_011537073.1:p.His3877IlefsTer6
XM_011538772.2:c.11623del	XP_011537074.1:p.His3875IlefsTer6
XM_011538773.2:c.11620del	XP_011537075.1:p.His3874IlefsTer6
XM_011538774.2:c.11611del	XP_011537076.1:p.His3871IlefsTer6
XM_011538776.2:c.11539del	XP_011537078.1:p.His3847IlefsTer6
XR_001748874.1:n.12941del
NM_003482.4:c.11623del MANE Select	NP_003473.3:p.His3875IlefsTer6