Canonical Allele Identifier: CA995476170
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35720466_35720471del , CM000681.2:g.35720466_35720471del GRCh38
NC_000019.9:g.36211368_36211373del , CM000681.1:g.36211368_36211373del GRCh37
NC_000019.8:g.40903208_40903213del NCBI36
NG_052906.1:g.7448_7453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.1053_1058del ENSP00000501283.1:p.Glu351_Lys352del
ENST00000687718.1:c.*620_*625del ENSP00000510535.1:n.*620_*625del
ENST00000689139.1:c.617_622del
ENST00000691855.1:c.617_622del
ENST00000692961.1:c.1119_1124del ENSP00000509289.1:p.Glu373_Lys374del
ENST00000420124.4:c.1119_1124del MANE Select ENSP00000398837.2:p.Glu373_Lys374del
ENST00000673918.1:c.1053_1058del ENSP00000501283.1:p.Glu351_Lys352del
ENST00000420124.2:c.1119_1124del ENSP00000398837.1:p.Glu373_Lys374del
NM_014727.2:c.1119_1124del NP_055542.1:p.Glu373_Lys374del
XM_011527561.1:c.1053_1058del XP_011525863.1:p.Glu351_Lys352del
XM_011527562.1:c.1119_1124del XP_011525864.1:p.Glu373_Lys374del
XM_011527563.1:c.1119_1124del XP_011525865.1:p.Glu373_Lys374del
XR_935878.1:n.1143_1148del
XM_011527561.2:c.555_560del XP_011525863.2:p.Glu185_Lys186del
XM_011527562.2:c.1119_1124del XP_011525864.1:p.Glu373_Lys374del
XM_017027544.1:c.1119_1124del XP_016883033.1:p.Glu373_Lys374del
XM_017027545.1:c.555_560del XP_016883034.1:p.Glu185_Lys186del
XR_935878.2:n.1320_1325del
NM_014727.3:c.1119_1124del MANE Select NP_055542.1:p.Glu373_Lys374del