Canonical Allele Identifier: CA2584575163

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732969-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732973del , CM000681.2:g.35732973del	GRCh38
NC_000019.9:g.36223874del , CM000681.1:g.36223874del	GRCh37
NC_000019.8:g.40915714del	NCBI36
NG_052906.1:g.19955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.730del
ENST00000673918.2:c.6358del	ENSP00000501283.1:p.Leu2120TrpfsTer11
ENST00000674114.2:c.3965del	ENSP00000501039.2:n.3965del
ENST00000684977.1:c.1642del	ENSP00000509384.1:p.Leu548TrpfsTer11
ENST00000689544.1:n.1577del
ENST00000691421.1:c.1645del	ENSP00000508674.1:p.Leu549TrpfsTer11
ENST00000691855.1:c.5966del
ENST00000692961.1:c.6424del	ENSP00000509289.1:p.Leu2142TrpfsTer11
ENST00000693677.1:c.705-624del	ENSP00000509779.1:n.705-624del
ENST00000420124.4:c.6424del MANE Select	ENSP00000398837.2:p.Leu2142TrpfsTer11
ENST00000673918.1:c.6358del	ENSP00000501283.1:p.Leu2120TrpfsTer11
ENST00000674114.1:c.3746del
ENST00000420124.2:c.6424del	ENSP00000398837.1:p.Leu2142TrpfsTer11
NM_014727.2:c.6424del	NP_055542.1:p.Leu2142TrpfsTer11
XM_011527561.1:c.6358del	XP_011525863.1:p.Leu2120TrpfsTer11
XM_011527562.1:c.6424del	XP_011525864.1:p.Leu2142TrpfsTer11
XM_011527563.1:c.6148del	XP_011525865.1:p.Leu2050TrpfsTer11
XM_011527561.2:c.5860del	XP_011525863.2:p.Leu1954TrpfsTer11
XM_011527562.2:c.6424del	XP_011525864.1:p.Leu2142TrpfsTer11
XM_017027544.1:c.6424del	XP_016883033.1:p.Leu2142TrpfsTer11
XM_017027545.1:c.5860del	XP_016883034.1:p.Leu1954TrpfsTer11
XM_017027546.1:c.3388del	XP_016883035.1:p.Leu1130TrpfsTer11
NM_014727.3:c.6424del MANE Select	NP_055542.1:p.Leu2142TrpfsTer11