Canonical Allele Identifier: CA271583
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 158724
ClinVar RCV Id: RCV000146161
dbSNP Id: rs587783686

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031810del , CM000674.2:g.49031810del GRCh38
NC_000012.11:g.49425593del , CM000674.1:g.49425593del GRCh37
NC_000012.10:g.47711860del NCBI36
NG_027827.1:g.28516del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.12896del ENSP00000506726.1:p.Gly4299AspfsTer?
ENST00000685166.1:c.12905del ENSP00000509386.1:p.Gly4302AspfsTer?
ENST00000685554.1:c.1753-497del ENSP00000508640.1:n.1753-497del
ENST00000692637.1:c.12893del ENSP00000509666.1:p.Gly4298AspfsTer?
ENST00000692841.1:c.4375del ENSP00000508711.1:n.4375del
ENST00000301067.12:c.12896del MANE Select ENSP00000301067.7:p.Gly4299AspfsTer?
ENST00000301067.11:c.12896del ENSP00000301067.7:p.Gly4299AspfsTer?
NM_003482.3:c.12896del NP_003473.3:p.Gly4299AspfsTer?
XM_005269162.3:c.12896del XP_005269219.1:p.Gly4299AspfsTer?
XM_006719614.2:c.12905del XP_006719677.1:p.Gly4302AspfsTer?
XM_006719616.2:c.12893del XP_006719679.1:p.Gly4298AspfsTer?
XM_011538770.1:c.12905del XP_011537072.1:p.Gly4302AspfsTer?
XM_011538771.1:c.12902del XP_011537073.1:p.Gly4301AspfsTer?
XM_011538772.1:c.12896del XP_011537074.1:p.Gly4299AspfsTer?
XM_011538773.1:c.12893del XP_011537075.1:p.Gly4298AspfsTer?
XM_011538774.1:c.12884del XP_011537076.1:p.Gly4295AspfsTer?
XM_011538775.1:c.12905del XP_011537077.1:p.Gly4302AspfsTer?
XM_011538776.1:c.12812del XP_011537078.1:p.Gly4271AspfsTer?
XR_944740.1:n.15225del
XM_005269162.4:c.12896del XP_005269219.1:p.Gly4299AspfsTer?
XM_006719614.4:c.12905del XP_006719677.1:p.Gly4302AspfsTer?
XM_006719616.3:c.12893del XP_006719679.1:p.Gly4298AspfsTer?
XM_011538770.2:c.12905del XP_011537072.1:p.Gly4302AspfsTer?
XM_011538771.2:c.12902del XP_011537073.1:p.Gly4301AspfsTer?
XM_011538772.2:c.12896del XP_011537074.1:p.Gly4299AspfsTer?
XM_011538773.2:c.12893del XP_011537075.1:p.Gly4298AspfsTer?
XM_011538774.2:c.12884del XP_011537076.1:p.Gly4295AspfsTer?
XM_011538776.2:c.12812del XP_011537078.1:p.Gly4271AspfsTer?
XR_001748874.1:n.14214del
NM_003482.4:c.12896del MANE Select NP_003473.3:p.Gly4299AspfsTer?