Canonical Allele Identifier: CA16619544
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 422962
dbSNP Id: rs1064796125

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49052683del , CM000674.2:g.49052683del GRCh38
NC_000012.11:g.49446466del , CM000674.1:g.49446466del GRCh37
NC_000012.10:g.47732733del NCBI36
NG_027827.1:g.7646del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.1143del ENSP00000506726.1:p.Thr382LeufsTer20
ENST00000685166.1:c.1143del ENSP00000509386.1:p.Thr382LeufsTer20
ENST00000686968.1:c.619del ENSP00000509151.1:p.His207ThrfsTer?
ENST00000692637.1:c.1143del ENSP00000509666.1:p.Thr382LeufsTer20
ENST00000301067.12:c.1143del MANE Select ENSP00000301067.7:p.Thr382LeufsTer20
ENST00000301067.11:c.1143del ENSP00000301067.7:p.Thr382LeufsTer20
NM_003482.3:c.1143del NP_003473.3:p.Thr382LeufsTer20
XM_005269162.3:c.1143del XP_005269219.1:p.Thr382LeufsTer20
XM_006719614.2:c.1143del XP_006719677.1:p.Thr382LeufsTer20
XM_006719616.2:c.1143del XP_006719679.1:p.Thr382LeufsTer20
XM_011538770.1:c.1143del XP_011537072.1:p.Thr382LeufsTer20
XM_011538771.1:c.1143del XP_011537073.1:p.Thr382LeufsTer20
XM_011538772.1:c.1143del XP_011537074.1:p.Thr382LeufsTer20
XM_011538773.1:c.1143del XP_011537075.1:p.Thr382LeufsTer20
XM_011538774.1:c.1143del XP_011537076.1:p.Thr382LeufsTer20
XM_011538775.1:c.1143del XP_011537077.1:p.Thr382LeufsTer20
XM_011538776.1:c.1143del XP_011537078.1:p.Thr382LeufsTer20
XR_944740.1:n.3463del
XM_005269162.4:c.1143del XP_005269219.1:p.Thr382LeufsTer20
XM_006719614.4:c.1143del XP_006719677.1:p.Thr382LeufsTer20
XM_006719616.3:c.1143del XP_006719679.1:p.Thr382LeufsTer20
XM_011538770.2:c.1143del XP_011537072.1:p.Thr382LeufsTer20
XM_011538771.2:c.1143del XP_011537073.1:p.Thr382LeufsTer20
XM_011538772.2:c.1143del XP_011537074.1:p.Thr382LeufsTer20
XM_011538773.2:c.1143del XP_011537075.1:p.Thr382LeufsTer20
XM_011538774.2:c.1143del XP_011537076.1:p.Thr382LeufsTer20
XM_011538776.2:c.1143del XP_011537078.1:p.Thr382LeufsTer20
XR_001748874.1:n.2452del
NM_003482.4:c.1143del MANE Select NP_003473.3:p.Thr382LeufsTer20