Canonical Allele Identifier: CA2695216411
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49039468del , CM000674.2:g.49039468del GRCh38
NC_000012.11:g.49433251del , CM000674.1:g.49433251del GRCh37
NC_000012.10:g.47719518del NCBI36
NG_027827.1:g.20857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.8196del ENSP00000506726.1:p.Ser2733ValfsTer24
ENST00000685166.1:c.8205del ENSP00000509386.1:p.Ser2736ValfsTer24
ENST00000689060.1:c.2215del
ENST00000689143.1:c.1869del ENSP00000509839.1:p.Ser624ValfsTer24
ENST00000689944.1:c.2305del
ENST00000692637.1:c.8193del ENSP00000509666.1:p.Ser2732ValfsTer24
ENST00000301067.12:c.8196del MANE Select ENSP00000301067.7:p.Ser2733ValfsTer24
ENST00000301067.11:c.8196del ENSP00000301067.7:p.Ser2733ValfsTer24
NM_003482.3:c.8196del NP_003473.3:p.Ser2733ValfsTer24
XM_005269162.3:c.8196del XP_005269219.1:p.Ser2733ValfsTer24
XM_006719614.2:c.8205del XP_006719677.1:p.Ser2736ValfsTer24
XM_006719616.2:c.8193del XP_006719679.1:p.Ser2732ValfsTer24
XM_011538770.1:c.8205del XP_011537072.1:p.Ser2736ValfsTer24
XM_011538771.1:c.8202del XP_011537073.1:p.Ser2735ValfsTer24
XM_011538772.1:c.8196del XP_011537074.1:p.Ser2733ValfsTer24
XM_011538773.1:c.8193del XP_011537075.1:p.Ser2732ValfsTer24
XM_011538774.1:c.8184del XP_011537076.1:p.Ser2729ValfsTer24
XM_011538775.1:c.8205del XP_011537077.1:p.Ser2736ValfsTer24
XM_011538776.1:c.8112del XP_011537078.1:p.Ser2705ValfsTer24
XR_944740.1:n.10525del
XM_005269162.4:c.8196del XP_005269219.1:p.Ser2733ValfsTer24
XM_006719614.4:c.8205del XP_006719677.1:p.Ser2736ValfsTer24
XM_006719616.3:c.8193del XP_006719679.1:p.Ser2732ValfsTer24
XM_011538770.2:c.8205del XP_011537072.1:p.Ser2736ValfsTer24
XM_011538771.2:c.8202del XP_011537073.1:p.Ser2735ValfsTer24
XM_011538772.2:c.8196del XP_011537074.1:p.Ser2733ValfsTer24
XM_011538773.2:c.8193del XP_011537075.1:p.Ser2732ValfsTer24
XM_011538774.2:c.8184del XP_011537076.1:p.Ser2729ValfsTer24
XM_011538776.2:c.8112del XP_011537078.1:p.Ser2705ValfsTer24
XR_001748874.1:n.9514del
NM_003482.4:c.8196del MANE Select NP_003473.3:p.Ser2733ValfsTer24