Canonical Allele Identifier: CA645594421

Gene: KMT2D

Linked Data

• COSMIC: COSM4702405 ; COSM4702406

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022087dup , CM000674.2:g.49022087dup	GRCh38
NC_000012.11:g.49415870dup , CM000674.1:g.49415870dup	GRCh37
NC_000012.10:g.47702137dup	NCBI36
NG_027827.1:g.38241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.450dup
ENST00000681974.1:n.1152dup
ENST00000682693.1:n.2114dup
ENST00000682886.1:n.886dup
ENST00000683543.2:c.16528dup	ENSP00000506726.1:p.Ile5510AsnfsTer18
ENST00000683988.1:c.451dup	ENSP00000506939.1:p.Ile151AsnfsTer18
ENST00000684428.1:c.1073dup	ENSP00000507433.1:n.1073dup
ENST00000685024.1:c.1634dup
ENST00000685166.1:c.16489dup	ENSP00000509386.1:p.Ile5497AsnfsTer18
ENST00000691932.1:c.481dup	ENSP00000509037.1:p.Ile161AsnfsTer18
ENST00000692637.1:c.16477dup	ENSP00000509666.1:p.Ile5493AsnfsTer18
ENST00000301067.12:c.16480dup MANE Select	ENSP00000301067.7:p.Ile5494AsnfsTer18
ENST00000301067.11:c.16480dup	ENSP00000301067.7:p.Ile5494AsnfsTer18
ENST00000526209.1:c.523dup	ENSP00000435714.1:p.Ile175AsnfsTer18
NM_003482.3:c.16480dup	NP_003473.3:p.Ile5494AsnfsTer18
XM_005269162.3:c.16480dup	XP_005269219.1:p.Ile5494AsnfsTer18
XM_006719614.2:c.16489dup	XP_006719677.1:p.Ile5497AsnfsTer18
XM_006719616.2:c.16477dup	XP_006719679.1:p.Ile5493AsnfsTer18
XM_011538770.1:c.16537dup	XP_011537072.1:p.Ile5513AsnfsTer18
XM_011538771.1:c.16534dup	XP_011537073.1:p.Ile5512AsnfsTer18
XM_011538772.1:c.16528dup	XP_011537074.1:p.Ile5510AsnfsTer18
XM_011538773.1:c.16525dup	XP_011537075.1:p.Ile5509AsnfsTer18
XM_011538774.1:c.16516dup	XP_011537076.1:p.Ile5506AsnfsTer18
XM_011538775.1:c.16471dup	XP_011537077.1:p.Ile5491AsnfsTer18
XM_011538776.1:c.16444dup	XP_011537078.1:p.Ile5482AsnfsTer18
XM_005269162.4:c.16480dup	XP_005269219.1:p.Ile5494AsnfsTer18
XM_006719614.4:c.16489dup	XP_006719677.1:p.Ile5497AsnfsTer18
XM_006719616.3:c.16477dup	XP_006719679.1:p.Ile5493AsnfsTer18
XM_011538770.2:c.16537dup	XP_011537072.1:p.Ile5513AsnfsTer18
XM_011538771.2:c.16534dup	XP_011537073.1:p.Ile5512AsnfsTer18
XM_011538772.2:c.16528dup	XP_011537074.1:p.Ile5510AsnfsTer18
XM_011538773.2:c.16525dup	XP_011537075.1:p.Ile5509AsnfsTer18
XM_011538774.2:c.16516dup	XP_011537076.1:p.Ile5506AsnfsTer18
XM_011538776.2:c.16444dup	XP_011537078.1:p.Ile5482AsnfsTer18
XR_001748874.1:n.16657dup
NM_003482.4:c.16480dup MANE Select	NP_003473.3:p.Ile5494AsnfsTer18