Canonical Allele Identifier: CA2034958226

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49048018_49048023delinsGGAGGT , CM000674.2:g.49048018_49048023delinsGGAGGT	GRCh38
NC_000012.11:g.49441801_49441806delinsGGAGGT , CM000674.1:g.49441801_49441806delinsGGAGGT	GRCh37
NC_000012.10:g.47728068_47728073delinsGGAGGT	NCBI36
NG_027827.1:g.12302_12307delinsACCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.4178_4183delinsACCTCC	ENSP00000506726.1:p.His1393=
ENST00000685166.1:c.4178_4183delinsACCTCC	ENSP00000509386.1:p.His1393=
ENST00000688095.1:c.158_163delinsACCTCC	ENSP00000510007.1:p.His53=
ENST00000692637.1:c.4175_4180delinsACCTCC	ENSP00000509666.1:p.His1392=
ENST00000301067.12:c.4178_4183delinsACCTCC MANE Select	ENSP00000301067.7:p.His1393=
ENST00000301067.11:c.4178_4183delinsACCTCC	ENSP00000301067.7:p.His1393=
NM_003482.3:c.4178_4183delinsACCTCC	NP_003473.3:p.His1393=
XM_005269162.3:c.4178_4183delinsACCTCC	XP_005269219.1:p.His1393=
XM_006719614.2:c.4178_4183delinsACCTCC	XP_006719677.1:p.His1393=
XM_006719616.2:c.4175_4180delinsACCTCC	XP_006719679.1:p.His1392=
XM_011538770.1:c.4178_4183delinsACCTCC	XP_011537072.1:p.His1393=
XM_011538771.1:c.4175_4180delinsACCTCC	XP_011537073.1:p.His1392=
XM_011538772.1:c.4178_4183delinsACCTCC	XP_011537074.1:p.His1393=
XM_011538773.1:c.4175_4180delinsACCTCC	XP_011537075.1:p.His1392=
XM_011538774.1:c.4178_4183delinsACCTCC	XP_011537076.1:p.His1393=
XM_011538775.1:c.4178_4183delinsACCTCC	XP_011537077.1:p.His1393=
XM_011538776.1:c.4178_4183delinsACCTCC	XP_011537078.1:p.His1393=
XR_944740.1:n.6498_6503delinsACCTCC
XM_005269162.4:c.4178_4183delinsACCTCC	XP_005269219.1:p.His1393=
XM_006719614.4:c.4178_4183delinsACCTCC	XP_006719677.1:p.His1393=
XM_006719616.3:c.4175_4180delinsACCTCC	XP_006719679.1:p.His1392=
XM_011538770.2:c.4178_4183delinsACCTCC	XP_011537072.1:p.His1393=
XM_011538771.2:c.4175_4180delinsACCTCC	XP_011537073.1:p.His1392=
XM_011538772.2:c.4178_4183delinsACCTCC	XP_011537074.1:p.His1393=
XM_011538773.2:c.4175_4180delinsACCTCC	XP_011537075.1:p.His1392=
XM_011538774.2:c.4178_4183delinsACCTCC	XP_011537076.1:p.His1393=
XM_011538776.2:c.4178_4183delinsACCTCC	XP_011537078.1:p.His1393=
XR_001748874.1:n.5487_5492delinsACCTCC
NM_003482.4:c.4178_4183delinsACCTCC MANE Select	NP_003473.3:p.His1393=