Canonical Allele Identifier: CA645604594

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732426-TC-T
• COSMIC: COSM3730030

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732431del , CM000681.2:g.35732431del	GRCh38
NC_000019.9:g.36223332del , CM000681.1:g.36223332del	GRCh37
NC_000019.8:g.40915172del	NCBI36
NG_052906.1:g.19413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.188del
ENST00000673918.2:c.5816del	ENSP00000501283.1:p.Pro1939LeufsTer26
ENST00000674114.2:c.3423del	ENSP00000501039.2:n.3423del
ENST00000684977.1:c.1100del	ENSP00000509384.1:p.Pro367LeufsTer26
ENST00000689544.1:n.1035del
ENST00000691421.1:c.1103del	ENSP00000508674.1:p.Pro368LeufsTer26
ENST00000691855.1:c.5424del
ENST00000692961.1:c.5882del	ENSP00000509289.1:p.Pro1961LeufsTer26
ENST00000693677.1:c.704+102del	ENSP00000509779.1:n.704+102del
ENST00000420124.4:c.5882del MANE Select	ENSP00000398837.2:p.Pro1961LeufsTer26
ENST00000673918.1:c.5816del	ENSP00000501283.1:p.Pro1939LeufsTer26
ENST00000674114.1:c.3204del
ENST00000420124.2:c.5882del	ENSP00000398837.1:p.Pro1961LeufsTer26
NM_014727.2:c.5882del	NP_055542.1:p.Pro1961LeufsTer26
XM_011527561.1:c.5816del	XP_011525863.1:p.Pro1939LeufsTer26
XM_011527562.1:c.5882del	XP_011525864.1:p.Pro1961LeufsTer26
XM_011527563.1:c.5606del	XP_011525865.1:p.Pro1869LeufsTer26
XM_011527561.2:c.5318del	XP_011525863.2:p.Pro1773LeufsTer26
XM_011527562.2:c.5882del	XP_011525864.1:p.Pro1961LeufsTer26
XM_017027544.1:c.5882del	XP_016883033.1:p.Pro1961LeufsTer26
XM_017027545.1:c.5318del	XP_016883034.1:p.Pro1773LeufsTer26
XM_017027546.1:c.2846del	XP_016883035.1:p.Pro949LeufsTer26
NM_014727.3:c.5882del MANE Select	NP_055542.1:p.Pro1961LeufsTer26