Canonical Allele Identifier: CA2580085573

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2429392
• ClinVar RCV Id: RCV003126329

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022065del , CM000674.2:g.49022065del	GRCh38
NC_000012.11:g.49415848del , CM000674.1:g.49415848del	GRCh37
NC_000012.10:g.47702115del	NCBI36
NG_027827.1:g.38261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.470del
ENST00000681974.1:n.1172del
ENST00000682693.1:n.2134del
ENST00000682886.1:n.906del
ENST00000683543.2:c.16548del	ENSP00000506726.1:p.Arg5517GlufsTer8
ENST00000683988.1:c.471del	ENSP00000506939.1:p.Arg158GlufsTer8
ENST00000684428.1:c.1093del	ENSP00000507433.1:n.1093del
ENST00000685024.1:c.1654del
ENST00000685166.1:c.16509del	ENSP00000509386.1:p.Arg5504GlufsTer8
ENST00000691932.1:c.501del	ENSP00000509037.1:p.Arg168GlufsTer8
ENST00000692637.1:c.16497del	ENSP00000509666.1:p.Arg5500GlufsTer8
ENST00000301067.12:c.16500del MANE Select	ENSP00000301067.7:p.Arg5501GlufsTer8
ENST00000301067.11:c.16500del	ENSP00000301067.7:p.Arg5501GlufsTer8
ENST00000526209.1:c.543del	ENSP00000435714.1:p.Arg182GlufsTer8
NM_003482.3:c.16500del	NP_003473.3:p.Arg5501GlufsTer8
XM_005269162.3:c.16500del	XP_005269219.1:p.Arg5501GlufsTer8
XM_006719614.2:c.16509del	XP_006719677.1:p.Arg5504GlufsTer8
XM_006719616.2:c.16497del	XP_006719679.1:p.Arg5500GlufsTer8
XM_011538770.1:c.16557del	XP_011537072.1:p.Arg5520GlufsTer8
XM_011538771.1:c.16554del	XP_011537073.1:p.Arg5519GlufsTer8
XM_011538772.1:c.16548del	XP_011537074.1:p.Arg5517GlufsTer8
XM_011538773.1:c.16545del	XP_011537075.1:p.Arg5516GlufsTer8
XM_011538774.1:c.16536del	XP_011537076.1:p.Arg5513GlufsTer8
XM_011538775.1:c.16491del	XP_011537077.1:p.Arg5498GlufsTer8
XM_011538776.1:c.16464del	XP_011537078.1:p.Arg5489GlufsTer8
XM_005269162.4:c.16500del	XP_005269219.1:p.Arg5501GlufsTer8
XM_006719614.4:c.16509del	XP_006719677.1:p.Arg5504GlufsTer8
XM_006719616.3:c.16497del	XP_006719679.1:p.Arg5500GlufsTer8
XM_011538770.2:c.16557del	XP_011537072.1:p.Arg5520GlufsTer8
XM_011538771.2:c.16554del	XP_011537073.1:p.Arg5519GlufsTer8
XM_011538772.2:c.16548del	XP_011537074.1:p.Arg5517GlufsTer8
XM_011538773.2:c.16545del	XP_011537075.1:p.Arg5516GlufsTer8
XM_011538774.2:c.16536del	XP_011537076.1:p.Arg5513GlufsTer8
XM_011538776.2:c.16464del	XP_011537078.1:p.Arg5489GlufsTer8
XR_001748874.1:n.16677del
NM_003482.4:c.16500del MANE Select	NP_003473.3:p.Arg5501GlufsTer8