Canonical Allele Identifier: CA222046

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 94192
• ClinVar RCV Id: RCV000179089
• dbSNP Id: rs398123735
• MyVariant Identifiers: chr12:g.49416389_49416405delinsG (hg19) ; chr12:g.49022606_49022622delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022606_49022622delinsG , CM000674.2:g.49022606_49022622delinsG	GRCh38
NC_000012.11:g.49416389_49416405delinsG , CM000674.1:g.49416389_49416405delinsG	GRCh37
NC_000012.10:g.47702656_47702672delinsG	NCBI36
NG_027827.1:g.37703_37719delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.276_292delinsC
ENST00000681974.1:n.978_994delinsC
ENST00000682693.1:n.1940_1956delinsC
ENST00000682886.1:n.476_492delinsC
ENST00000683543.2:c.16354_16370delinsC	ENSP00000506726.1:p.Ala5452GlnfsTer15
ENST00000683988.1:c.277_293delinsC	ENSP00000506939.1:p.Ala93GlnfsTer15
ENST00000684428.1:c.841_857delinsC	ENSP00000507433.1:p.Ala281GlnfsTer25
ENST00000684755.1:n.889_905delinsC
ENST00000685024.1:c.1460_1476delinsC
ENST00000685166.1:c.16315_16331delinsC	ENSP00000509386.1:p.Ala5439GlnfsTer15
ENST00000688411.1:c.783_799delinsC	ENSP00000510146.1:n.783_799delinsC
ENST00000691932.1:c.307_323delinsC	ENSP00000509037.1:p.Ala103GlnfsTer15
ENST00000692637.1:c.16303_16319delinsC	ENSP00000509666.1:p.Ala5435GlnfsTer15
ENST00000301067.12:c.16306_16322delinsC MANE Select	ENSP00000301067.7:p.Ala5436GlnfsTer15
ENST00000301067.11:c.16306_16322delinsC	ENSP00000301067.7:p.Ala5436GlnfsTer15
ENST00000526209.1:c.349_365delinsC	ENSP00000435714.1:p.Ala117GlnfsTer15
NM_003482.3:c.16306_16322delinsC	NP_003473.3:p.Ala5436GlnfsTer15
XM_005269162.3:c.16306_16322delinsC	XP_005269219.1:p.Ala5436GlnfsTer15
XM_006719614.2:c.16315_16331delinsC	XP_006719677.1:p.Ala5439GlnfsTer15
XM_006719616.2:c.16303_16319delinsC	XP_006719679.1:p.Ala5435GlnfsTer15
XM_011538770.1:c.16363_16379delinsC	XP_011537072.1:p.Ala5455GlnfsTer15
XM_011538771.1:c.16360_16376delinsC	XP_011537073.1:p.Ala5454GlnfsTer15
XM_011538772.1:c.16354_16370delinsC	XP_011537074.1:p.Ala5452GlnfsTer15
XM_011538773.1:c.16351_16367delinsC	XP_011537075.1:p.Ala5451GlnfsTer15
XM_011538774.1:c.16342_16358delinsC	XP_011537076.1:p.Ala5448GlnfsTer15
XM_011538775.1:c.16297_16313delinsC	XP_011537077.1:p.Ala5433GlnfsTer15
XM_011538776.1:c.16270_16286delinsC	XP_011537078.1:p.Ala5424GlnfsTer15
XM_005269162.4:c.16306_16322delinsC	XP_005269219.1:p.Ala5436GlnfsTer15
XM_006719614.4:c.16315_16331delinsC	XP_006719677.1:p.Ala5439GlnfsTer15
XM_006719616.3:c.16303_16319delinsC	XP_006719679.1:p.Ala5435GlnfsTer15
XM_011538770.2:c.16363_16379delinsC	XP_011537072.1:p.Ala5455GlnfsTer15
XM_011538771.2:c.16360_16376delinsC	XP_011537073.1:p.Ala5454GlnfsTer15
XM_011538772.2:c.16354_16370delinsC	XP_011537074.1:p.Ala5452GlnfsTer15
XM_011538773.2:c.16351_16367delinsC	XP_011537075.1:p.Ala5451GlnfsTer15
XM_011538774.2:c.16342_16358delinsC	XP_011537076.1:p.Ala5448GlnfsTer15
XM_011538776.2:c.16270_16286delinsC	XP_011537078.1:p.Ala5424GlnfsTer15
XR_001748874.1:n.16483_16499delinsC
NM_003482.4:c.16306_16322delinsC MANE Select	NP_003473.3:p.Ala5436GlnfsTer15