Canonical Allele Identifier: CA2584575160

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732780-GCCTCGGGGCCAGGGCACGCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732782_35732803del , CM000681.2:g.35732782_35732803del	GRCh38
NC_000019.9:g.36223683_36223704del , CM000681.1:g.36223683_36223704del	GRCh37
NC_000019.8:g.40915523_40915544del	NCBI36
NG_052906.1:g.19764_19785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.539_560del
ENST00000673918.2:c.6167_6188del	ENSP00000501283.1:p.Pro2056LeufsTer6
ENST00000674114.2:c.3774_3795del	ENSP00000501039.2:n.3774_3795del
ENST00000684977.1:c.1451_1472del	ENSP00000509384.1:p.Pro484LeufsTer6
ENST00000689544.1:n.1386_1407del
ENST00000691421.1:c.1454_1475del	ENSP00000508674.1:p.Pro485LeufsTer6
ENST00000691855.1:c.5775_5796del
ENST00000692961.1:c.6233_6254del	ENSP00000509289.1:p.Pro2078LeufsTer6
ENST00000693677.1:c.704+453_704+474del	ENSP00000509779.1:n.704+453_704+474del
ENST00000420124.4:c.6233_6254del MANE Select	ENSP00000398837.2:p.Pro2078LeufsTer6
ENST00000673918.1:c.6167_6188del	ENSP00000501283.1:p.Pro2056LeufsTer6
ENST00000674114.1:c.3555_3576del
ENST00000420124.2:c.6233_6254del	ENSP00000398837.1:p.Pro2078LeufsTer6
NM_014727.2:c.6233_6254del	NP_055542.1:p.Pro2078LeufsTer6
XM_011527561.1:c.6167_6188del	XP_011525863.1:p.Pro2056LeufsTer6
XM_011527562.1:c.6233_6254del	XP_011525864.1:p.Pro2078LeufsTer6
XM_011527563.1:c.5957_5978del	XP_011525865.1:p.Pro1986LeufsTer6
XM_011527561.2:c.5669_5690del	XP_011525863.2:p.Pro1890LeufsTer6
XM_011527562.2:c.6233_6254del	XP_011525864.1:p.Pro2078LeufsTer6
XM_017027544.1:c.6233_6254del	XP_016883033.1:p.Pro2078LeufsTer6
XM_017027545.1:c.5669_5690del	XP_016883034.1:p.Pro1890LeufsTer6
XM_017027546.1:c.3197_3218del	XP_016883035.1:p.Pro1066LeufsTer6
NM_014727.3:c.6233_6254del MANE Select	NP_055542.1:p.Pro2078LeufsTer6