Canonical Allele Identifier: CA645579664

Gene: KMT2D

Linked Data

• COSMIC: COSM3733341 ; COSM3733342

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039354_49039355del , CM000674.2:g.49039354_49039355del	GRCh38
NC_000012.11:g.49433137_49433138del , CM000674.1:g.49433137_49433138del	GRCh37
NC_000012.10:g.47719404_47719405del	NCBI36
NG_027827.1:g.20970_20971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8233_8234del	ENSP00000506726.1:p.Lys2745GlufsTer23
ENST00000685166.1:c.8242_8243del	ENSP00000509386.1:p.Lys2748GlufsTer23
ENST00000689060.1:c.2252_2253del
ENST00000689143.1:c.1906_1907del	ENSP00000509839.1:p.Lys636GlufsTer23
ENST00000689944.1:c.2342_2343del
ENST00000692637.1:c.8230_8231del	ENSP00000509666.1:p.Lys2744GlufsTer23
ENST00000301067.12:c.8233_8234del MANE Select	ENSP00000301067.7:p.Lys2745GlufsTer23
ENST00000301067.11:c.8233_8234del	ENSP00000301067.7:p.Lys2745GlufsTer23
NM_003482.3:c.8233_8234del	NP_003473.3:p.Lys2745GlufsTer23
XM_005269162.3:c.8233_8234del	XP_005269219.1:p.Lys2745GlufsTer23
XM_006719614.2:c.8242_8243del	XP_006719677.1:p.Lys2748GlufsTer23
XM_006719616.2:c.8230_8231del	XP_006719679.1:p.Lys2744GlufsTer23
XM_011538770.1:c.8242_8243del	XP_011537072.1:p.Lys2748GlufsTer23
XM_011538771.1:c.8239_8240del	XP_011537073.1:p.Lys2747GlufsTer23
XM_011538772.1:c.8233_8234del	XP_011537074.1:p.Lys2745GlufsTer23
XM_011538773.1:c.8230_8231del	XP_011537075.1:p.Lys2744GlufsTer23
XM_011538774.1:c.8221_8222del	XP_011537076.1:p.Lys2741GlufsTer23
XM_011538775.1:c.8242_8243del	XP_011537077.1:p.Lys2748GlufsTer23
XM_011538776.1:c.8149_8150del	XP_011537078.1:p.Lys2717GlufsTer23
XR_944740.1:n.10562_10563del
XM_005269162.4:c.8233_8234del	XP_005269219.1:p.Lys2745GlufsTer23
XM_006719614.4:c.8242_8243del	XP_006719677.1:p.Lys2748GlufsTer23
XM_006719616.3:c.8230_8231del	XP_006719679.1:p.Lys2744GlufsTer23
XM_011538770.2:c.8242_8243del	XP_011537072.1:p.Lys2748GlufsTer23
XM_011538771.2:c.8239_8240del	XP_011537073.1:p.Lys2747GlufsTer23
XM_011538772.2:c.8233_8234del	XP_011537074.1:p.Lys2745GlufsTer23
XM_011538773.2:c.8230_8231del	XP_011537075.1:p.Lys2744GlufsTer23
XM_011538774.2:c.8221_8222del	XP_011537076.1:p.Lys2741GlufsTer23
XM_011538776.2:c.8149_8150del	XP_011537078.1:p.Lys2717GlufsTer23
XR_001748874.1:n.9551_9552del
NM_003482.4:c.8233_8234del MANE Select	NP_003473.3:p.Lys2745GlufsTer23