Canonical Allele Identifier: CA658823410

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 547415
• ClinVar RCV Id: RCV000659711
• dbSNP Id: rs1555196016
• MyVariant Identifiers: chr12:g.49443581_49443582del (hg19) ; chr12:g.49049798_49049799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49049799_49049800del , CM000674.2:g.49049799_49049800del	GRCh38
NC_000012.11:g.49443582_49443583del , CM000674.1:g.49443582_49443583del	GRCh37
NC_000012.10:g.47729849_47729850del	NCBI36
NG_027827.1:g.10526_10527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.3789_3790del	ENSP00000506726.1:p.Leu1264AlafsTer4
ENST00000685166.1:c.3789_3790del	ENSP00000509386.1:p.Leu1264AlafsTer4
ENST00000692637.1:c.3789_3790del	ENSP00000509666.1:p.Leu1264AlafsTer4
ENST00000301067.12:c.3789_3790del MANE Select	ENSP00000301067.7:p.Leu1264AlafsTer4
ENST00000301067.11:c.3789_3790del	ENSP00000301067.7:p.Leu1264AlafsTer4
NM_003482.3:c.3789_3790del	NP_003473.3:p.Leu1264AlafsTer4
XM_005269162.3:c.3789_3790del	XP_005269219.1:p.Leu1264AlafsTer4
XM_006719614.2:c.3789_3790del	XP_006719677.1:p.Leu1264AlafsTer4
XM_006719616.2:c.3789_3790del	XP_006719679.1:p.Leu1264AlafsTer4
XM_011538770.1:c.3789_3790del	XP_011537072.1:p.Leu1264AlafsTer4
XM_011538771.1:c.3789_3790del	XP_011537073.1:p.Leu1264AlafsTer4
XM_011538772.1:c.3789_3790del	XP_011537074.1:p.Leu1264AlafsTer4
XM_011538773.1:c.3789_3790del	XP_011537075.1:p.Leu1264AlafsTer4
XM_011538774.1:c.3789_3790del	XP_011537076.1:p.Leu1264AlafsTer4
XM_011538775.1:c.3789_3790del	XP_011537077.1:p.Leu1264AlafsTer4
XM_011538776.1:c.3789_3790del	XP_011537078.1:p.Leu1264AlafsTer4
XR_944740.1:n.6109_6110del
XM_005269162.4:c.3789_3790del	XP_005269219.1:p.Leu1264AlafsTer4
XM_006719614.4:c.3789_3790del	XP_006719677.1:p.Leu1264AlafsTer4
XM_006719616.3:c.3789_3790del	XP_006719679.1:p.Leu1264AlafsTer4
XM_011538770.2:c.3789_3790del	XP_011537072.1:p.Leu1264AlafsTer4
XM_011538771.2:c.3789_3790del	XP_011537073.1:p.Leu1264AlafsTer4
XM_011538772.2:c.3789_3790del	XP_011537074.1:p.Leu1264AlafsTer4
XM_011538773.2:c.3789_3790del	XP_011537075.1:p.Leu1264AlafsTer4
XM_011538774.2:c.3789_3790del	XP_011537076.1:p.Leu1264AlafsTer4
XM_011538776.2:c.3789_3790del	XP_011537078.1:p.Leu1264AlafsTer4
XR_001748874.1:n.5098_5099del
NM_003482.4:c.3789_3790del MANE Select	NP_003473.3:p.Leu1264AlafsTer4