Canonical Allele Identifier: CA645574513

Gene: KMT2D

Linked Data

• COSMIC: COSM221146 ; COSM221147

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033013_49033014insA , CM000674.2:g.49033013_49033014insA	GRCh38
NC_000012.11:g.49426796_49426797insA , CM000674.1:g.49426796_49426797insA	GRCh37
NC_000012.10:g.47713063_47713064insA	NCBI36
NG_027827.1:g.27311_27312insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11691_11692insT	ENSP00000506726.1:p.Gln3898SerfsTer?
ENST00000685166.1:c.11700_11701insT	ENSP00000509386.1:p.Gln3901SerfsTer?
ENST00000685554.1:c.1251_1252insT	ENSP00000508640.1:p.Gln418SerfsTer?
ENST00000687201.1:c.3270_3271insT	ENSP00000510037.1:p.Gln1091SerfsTer?
ENST00000692637.1:c.11688_11689insT	ENSP00000509666.1:p.Gln3897SerfsTer?
ENST00000692841.1:c.3170_3171insT	ENSP00000508711.1:n.3170_3171insT
ENST00000301067.12:c.11691_11692insT MANE Select	ENSP00000301067.7:p.Gln3898SerfsTer?
ENST00000301067.11:c.11691_11692insT	ENSP00000301067.7:p.Gln3898SerfsTer?
NM_003482.3:c.11691_11692insT	NP_003473.3:p.Gln3898SerfsTer?
XM_005269162.3:c.11691_11692insT	XP_005269219.1:p.Gln3898SerfsTer?
XM_006719614.2:c.11700_11701insT	XP_006719677.1:p.Gln3901SerfsTer?
XM_006719616.2:c.11688_11689insT	XP_006719679.1:p.Gln3897SerfsTer?
XM_011538770.1:c.11700_11701insT	XP_011537072.1:p.Gln3901SerfsTer?
XM_011538771.1:c.11697_11698insT	XP_011537073.1:p.Gln3900SerfsTer?
XM_011538772.1:c.11691_11692insT	XP_011537074.1:p.Gln3898SerfsTer?
XM_011538773.1:c.11688_11689insT	XP_011537075.1:p.Gln3897SerfsTer?
XM_011538774.1:c.11679_11680insT	XP_011537076.1:p.Gln3894SerfsTer?
XM_011538775.1:c.11700_11701insT	XP_011537077.1:p.Gln3901SerfsTer?
XM_011538776.1:c.11607_11608insT	XP_011537078.1:p.Gln3870SerfsTer?
XR_944740.1:n.14020_14021insT
XM_005269162.4:c.11691_11692insT	XP_005269219.1:p.Gln3898SerfsTer?
XM_006719614.4:c.11700_11701insT	XP_006719677.1:p.Gln3901SerfsTer?
XM_006719616.3:c.11688_11689insT	XP_006719679.1:p.Gln3897SerfsTer?
XM_011538770.2:c.11700_11701insT	XP_011537072.1:p.Gln3901SerfsTer?
XM_011538771.2:c.11697_11698insT	XP_011537073.1:p.Gln3900SerfsTer?
XM_011538772.2:c.11691_11692insT	XP_011537074.1:p.Gln3898SerfsTer?
XM_011538773.2:c.11688_11689insT	XP_011537075.1:p.Gln3897SerfsTer?
XM_011538774.2:c.11679_11680insT	XP_011537076.1:p.Gln3894SerfsTer?
XM_011538776.2:c.11607_11608insT	XP_011537078.1:p.Gln3870SerfsTer?
XR_001748874.1:n.13009_13010insT
NM_003482.4:c.11691_11692insT MANE Select	NP_003473.3:p.Gln3898SerfsTer?