Canonical Allele Identifier: CA645594422

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1172600
• ClinVar RCV Id: RCV001526529 ; RCV001810066
• dbSNP Id: rs1555184624
• COSMIC: COSM2006562 ; COSM2006563

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022095_49022096del , CM000674.2:g.49022095_49022096del	GRCh38
NC_000012.11:g.49415878_49415879del , CM000674.1:g.49415878_49415879del	GRCh37
NC_000012.10:g.47702145_47702146del	NCBI36
NG_027827.1:g.38230_38231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.439_440del
ENST00000681974.1:n.1141_1142del
ENST00000682693.1:n.2103_2104del
ENST00000682886.1:n.875_876del
ENST00000683543.2:c.16517_16518del	ENSP00000506726.1:p.Lys5506ArgfsTer21
ENST00000683988.1:c.440_441del	ENSP00000506939.1:p.Lys147ArgfsTer21
ENST00000684428.1:c.1062_1063del	ENSP00000507433.1:n.1062_1063del
ENST00000685024.1:c.1623_1624del
ENST00000685166.1:c.16478_16479del	ENSP00000509386.1:p.Lys5493ArgfsTer21
ENST00000691932.1:c.470_471del	ENSP00000509037.1:p.Lys157ArgfsTer21
ENST00000692637.1:c.16466_16467del	ENSP00000509666.1:p.Lys5489ArgfsTer21
ENST00000301067.12:c.16469_16470del MANE Select	ENSP00000301067.7:p.Lys5490ArgfsTer21
ENST00000301067.11:c.16469_16470del	ENSP00000301067.7:p.Lys5490ArgfsTer21
ENST00000526209.1:c.512_513del	ENSP00000435714.1:p.Lys171ArgfsTer21
NM_003482.3:c.16469_16470del	NP_003473.3:p.Lys5490ArgfsTer21
XM_005269162.3:c.16469_16470del	XP_005269219.1:p.Lys5490ArgfsTer21
XM_006719614.2:c.16478_16479del	XP_006719677.1:p.Lys5493ArgfsTer21
XM_006719616.2:c.16466_16467del	XP_006719679.1:p.Lys5489ArgfsTer21
XM_011538770.1:c.16526_16527del	XP_011537072.1:p.Lys5509ArgfsTer21
XM_011538771.1:c.16523_16524del	XP_011537073.1:p.Lys5508ArgfsTer21
XM_011538772.1:c.16517_16518del	XP_011537074.1:p.Lys5506ArgfsTer21
XM_011538773.1:c.16514_16515del	XP_011537075.1:p.Lys5505ArgfsTer21
XM_011538774.1:c.16505_16506del	XP_011537076.1:p.Lys5502ArgfsTer21
XM_011538775.1:c.16460_16461del	XP_011537077.1:p.Lys5487ArgfsTer21
XM_011538776.1:c.16433_16434del	XP_011537078.1:p.Lys5478ArgfsTer21
XM_005269162.4:c.16469_16470del	XP_005269219.1:p.Lys5490ArgfsTer21
XM_006719614.4:c.16478_16479del	XP_006719677.1:p.Lys5493ArgfsTer21
XM_006719616.3:c.16466_16467del	XP_006719679.1:p.Lys5489ArgfsTer21
XM_011538770.2:c.16526_16527del	XP_011537072.1:p.Lys5509ArgfsTer21
XM_011538771.2:c.16523_16524del	XP_011537073.1:p.Lys5508ArgfsTer21
XM_011538772.2:c.16517_16518del	XP_011537074.1:p.Lys5506ArgfsTer21
XM_011538773.2:c.16514_16515del	XP_011537075.1:p.Lys5505ArgfsTer21
XM_011538774.2:c.16505_16506del	XP_011537076.1:p.Lys5502ArgfsTer21
XM_011538776.2:c.16433_16434del	XP_011537078.1:p.Lys5478ArgfsTer21
XR_001748874.1:n.16646_16647del
NM_003482.4:c.16469_16470del MANE Select	NP_003473.3:p.Lys5490ArgfsTer21