Canonical Allele Identifier: CA2618608393
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49039462del , CM000674.2:g.49039462del GRCh38
NC_000012.11:g.49433245del , CM000674.1:g.49433245del GRCh37
NC_000012.10:g.47719512del NCBI36
NG_027827.1:g.20863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.8202del ENSP00000506726.1:p.Gly2735AlafsTer22
ENST00000685166.1:c.8211del ENSP00000509386.1:p.Gly2738AlafsTer22
ENST00000689060.1:c.2221del
ENST00000689143.1:c.1875del ENSP00000509839.1:p.Gly626AlafsTer22
ENST00000689944.1:c.2311del
ENST00000692637.1:c.8199del ENSP00000509666.1:p.Gly2734AlafsTer22
ENST00000301067.12:c.8202del MANE Select ENSP00000301067.7:p.Gly2735AlafsTer22
ENST00000301067.11:c.8202del ENSP00000301067.7:p.Gly2735AlafsTer22
NM_003482.3:c.8202del NP_003473.3:p.Gly2735AlafsTer22
XM_005269162.3:c.8202del XP_005269219.1:p.Gly2735AlafsTer22
XM_006719614.2:c.8211del XP_006719677.1:p.Gly2738AlafsTer22
XM_006719616.2:c.8199del XP_006719679.1:p.Gly2734AlafsTer22
XM_011538770.1:c.8211del XP_011537072.1:p.Gly2738AlafsTer22
XM_011538771.1:c.8208del XP_011537073.1:p.Gly2737AlafsTer22
XM_011538772.1:c.8202del XP_011537074.1:p.Gly2735AlafsTer22
XM_011538773.1:c.8199del XP_011537075.1:p.Gly2734AlafsTer22
XM_011538774.1:c.8190del XP_011537076.1:p.Gly2731AlafsTer22
XM_011538775.1:c.8211del XP_011537077.1:p.Gly2738AlafsTer22
XM_011538776.1:c.8118del XP_011537078.1:p.Gly2707AlafsTer22
XR_944740.1:n.10531del
XM_005269162.4:c.8202del XP_005269219.1:p.Gly2735AlafsTer22
XM_006719614.4:c.8211del XP_006719677.1:p.Gly2738AlafsTer22
XM_006719616.3:c.8199del XP_006719679.1:p.Gly2734AlafsTer22
XM_011538770.2:c.8211del XP_011537072.1:p.Gly2738AlafsTer22
XM_011538771.2:c.8208del XP_011537073.1:p.Gly2737AlafsTer22
XM_011538772.2:c.8202del XP_011537074.1:p.Gly2735AlafsTer22
XM_011538773.2:c.8199del XP_011537075.1:p.Gly2734AlafsTer22
XM_011538774.2:c.8190del XP_011537076.1:p.Gly2731AlafsTer22
XM_011538776.2:c.8118del XP_011537078.1:p.Gly2707AlafsTer22
XR_001748874.1:n.9520del
NM_003482.4:c.8202del MANE Select NP_003473.3:p.Gly2735AlafsTer22