Canonical Allele Identifier: CA645594427

Gene: KMT2D

Linked Data

• COSMIC: COSM221154 ; COSM221155

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024595_49024596insC , CM000674.2:g.49024595_49024596insC	GRCh38
NC_000012.11:g.49418378_49418379insC , CM000674.1:g.49418378_49418379insC	GRCh37
NC_000012.10:g.47704645_47704646insC	NCBI36
NG_027827.1:g.35729_35730insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.706_707insG
ENST00000683543.2:c.16034_16035insG	ENSP00000506726.1:p.Ile5345MetfsTer16
ENST00000683863.1:n.1749_1750insG
ENST00000684428.1:c.569_570insG	ENSP00000507433.1:p.Ile190MetfsTer18
ENST00000684755.1:n.569_570insG
ENST00000685024.1:c.1188_1189insG
ENST00000685166.1:c.16043_16044insG	ENSP00000509386.1:p.Ile5348MetfsTer18
ENST00000688411.1:c.511_512insG	ENSP00000510146.1:n.511_512insG
ENST00000691932.1:c.113_114insG	ENSP00000509037.1:p.Ile38MetfsTer?
ENST00000692637.1:c.16031_16032insG	ENSP00000509666.1:p.Ile5344MetfsTer18
ENST00000301067.12:c.16034_16035insG MANE Select	ENSP00000301067.7:p.Ile5345MetfsTer18
ENST00000301067.11:c.16034_16035insG	ENSP00000301067.7:p.Ile5345MetfsTer18
ENST00000526209.1:c.29_30insG	ENSP00000435714.1:p.Ile10MetfsTer16
NM_003482.3:c.16034_16035insG	NP_003473.3:p.Ile5345MetfsTer18
XM_005269162.3:c.16034_16035insG	XP_005269219.1:p.Ile5345MetfsTer18
XM_006719614.2:c.16043_16044insG	XP_006719677.1:p.Ile5348MetfsTer18
XM_006719616.2:c.16031_16032insG	XP_006719679.1:p.Ile5344MetfsTer18
XM_011538770.1:c.16043_16044insG	XP_011537072.1:p.Ile5348MetfsTer16
XM_011538771.1:c.16040_16041insG	XP_011537073.1:p.Ile5347MetfsTer16
XM_011538772.1:c.16034_16035insG	XP_011537074.1:p.Ile5345MetfsTer16
XM_011538773.1:c.16031_16032insG	XP_011537075.1:p.Ile5344MetfsTer16
XM_011538774.1:c.16022_16023insG	XP_011537076.1:p.Ile5341MetfsTer16
XM_011538775.1:c.15977_15978insG	XP_011537077.1:p.Ile5326MetfsTer16
XM_011538776.1:c.15950_15951insG	XP_011537078.1:p.Ile5317MetfsTer16
XM_005269162.4:c.16034_16035insG	XP_005269219.1:p.Ile5345MetfsTer18
XM_006719614.4:c.16043_16044insG	XP_006719677.1:p.Ile5348MetfsTer18
XM_006719616.3:c.16031_16032insG	XP_006719679.1:p.Ile5344MetfsTer18
XM_011538770.2:c.16043_16044insG	XP_011537072.1:p.Ile5348MetfsTer16
XM_011538771.2:c.16040_16041insG	XP_011537073.1:p.Ile5347MetfsTer16
XM_011538772.2:c.16034_16035insG	XP_011537074.1:p.Ile5345MetfsTer16
XM_011538773.2:c.16031_16032insG	XP_011537075.1:p.Ile5344MetfsTer16
XM_011538774.2:c.16022_16023insG	XP_011537076.1:p.Ile5341MetfsTer16
XM_011538776.2:c.15950_15951insG	XP_011537078.1:p.Ile5317MetfsTer16
XR_001748874.1:n.16211_16212insG
NM_003482.4:c.16034_16035insG MANE Select	NP_003473.3:p.Ile5345MetfsTer18