Canonical Allele Identifier: CA2333794624

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733046_35733055delinsTCCCAGGGGC , CM000681.2:g.35733046_35733055delinsTCCCAGGGGC	GRCh38
NC_000019.9:g.36223947_36223956delinsTCCCAGGGGC , CM000681.1:g.36223947_36223956delinsTCCCAGGGGC	GRCh37
NC_000019.8:g.40915787_40915796delinsTCCCAGGGGC	NCBI36
NG_052906.1:g.20028_20037delinsTCCCAGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.803_812delinsTCCCAGGGGC
ENST00000673918.2:c.6431_6440delinsTCCCAGGGGC	ENSP00000501283.1:p.Leu2144=
ENST00000674114.2:c.4038_4047delinsTCCCAGGGGC	ENSP00000501039.2:n.4038_4047delinsTCCCAGGGGC
ENST00000684977.1:c.1715_1724delinsTCCCAGGGGC	ENSP00000509384.1:p.Leu572=
ENST00000689544.1:n.1650_1659delinsTCCCAGGGGC
ENST00000691421.1:c.1718_1727delinsTCCCAGGGGC	ENSP00000508674.1:p.Leu573=
ENST00000691855.1:c.6039_6048delinsTCCCAGGGGC
ENST00000692961.1:c.6497_6506delinsTCCCAGGGGC	ENSP00000509289.1:p.Leu2166=
ENST00000693677.1:c.705-551_705-542delinsTCCCAGGGGC	ENSP00000509779.1:n.705-551_705-542delinsTCCCAGGGGC
ENST00000420124.4:c.6497_6506delinsTCCCAGGGGC MANE Select	ENSP00000398837.2:p.Leu2166=
ENST00000673918.1:c.6431_6440delinsTCCCAGGGGC	ENSP00000501283.1:p.Leu2144=
ENST00000674114.1:c.3819_3828delinsTCCCAGGGGC
ENST00000420124.2:c.6497_6506delinsTCCCAGGGGC	ENSP00000398837.1:p.Leu2166=
NM_014727.2:c.6497_6506delinsTCCCAGGGGC	NP_055542.1:p.Leu2166=
XM_011527561.1:c.6431_6440delinsTCCCAGGGGC	XP_011525863.1:p.Leu2144=
XM_011527562.1:c.6497_6506delinsTCCCAGGGGC	XP_011525864.1:p.Leu2166=
XM_011527563.1:c.6221_6230delinsTCCCAGGGGC	XP_011525865.1:p.Leu2074=
XM_011527561.2:c.5933_5942delinsTCCCAGGGGC	XP_011525863.2:p.Leu1978=
XM_011527562.2:c.6497_6506delinsTCCCAGGGGC	XP_011525864.1:p.Leu2166=
XM_017027544.1:c.6497_6506delinsTCCCAGGGGC	XP_016883033.1:p.Leu2166=
XM_017027545.1:c.5933_5942delinsTCCCAGGGGC	XP_016883034.1:p.Leu1978=
XM_017027546.1:c.3461_3470delinsTCCCAGGGGC	XP_016883035.1:p.Leu1154=
NM_014727.3:c.6497_6506delinsTCCCAGGGGC MANE Select	NP_055542.1:p.Leu2166=