Canonical Allele Identifier: CA645604595

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732956-TC-T
• COSMIC: COSM4612391

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732962del , CM000681.2:g.35732962del	GRCh38
NC_000019.9:g.36223863del , CM000681.1:g.36223863del	GRCh37
NC_000019.8:g.40915703del	NCBI36
NG_052906.1:g.19944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.719del
ENST00000673918.2:c.6347del	ENSP00000501283.1:p.Pro2116ArgfsTer15
ENST00000674114.2:c.3954del	ENSP00000501039.2:n.3954del
ENST00000684977.1:c.1631del	ENSP00000509384.1:p.Pro544ArgfsTer15
ENST00000689544.1:n.1566del
ENST00000691421.1:c.1634del	ENSP00000508674.1:p.Pro545ArgfsTer15
ENST00000691855.1:c.5955del
ENST00000692961.1:c.6413del	ENSP00000509289.1:p.Pro2138ArgfsTer15
ENST00000693677.1:c.704+633del	ENSP00000509779.1:n.704+633del
ENST00000420124.4:c.6413del MANE Select	ENSP00000398837.2:p.Pro2138ArgfsTer15
ENST00000673918.1:c.6347del	ENSP00000501283.1:p.Pro2116ArgfsTer15
ENST00000674114.1:c.3735del
ENST00000420124.2:c.6413del	ENSP00000398837.1:p.Pro2138ArgfsTer15
NM_014727.2:c.6413del	NP_055542.1:p.Pro2138ArgfsTer15
XM_011527561.1:c.6347del	XP_011525863.1:p.Pro2116ArgfsTer15
XM_011527562.1:c.6413del	XP_011525864.1:p.Pro2138ArgfsTer15
XM_011527563.1:c.6137del	XP_011525865.1:p.Pro2046ArgfsTer15
XM_011527561.2:c.5849del	XP_011525863.2:p.Pro1950ArgfsTer15
XM_011527562.2:c.6413del	XP_011525864.1:p.Pro2138ArgfsTer15
XM_017027544.1:c.6413del	XP_016883033.1:p.Pro2138ArgfsTer15
XM_017027545.1:c.5849del	XP_016883034.1:p.Pro1950ArgfsTer15
XM_017027546.1:c.3377del	XP_016883035.1:p.Pro1126ArgfsTer15
NM_014727.3:c.6413del MANE Select	NP_055542.1:p.Pro2138ArgfsTer15