Canonical Allele Identifier: CA2726328084

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710640

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024658del , CM000674.2:g.49024658del	GRCh38
NC_000012.11:g.49418441del , CM000674.1:g.49418441del	GRCh37
NC_000012.10:g.47704708del	NCBI36
NG_027827.1:g.35671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.648del
ENST00000683543.2:c.15976del	ENSP00000506726.1:p.Met5327TrpfsTer6
ENST00000683863.1:n.1691del
ENST00000684428.1:c.511del	ENSP00000507433.1:p.Met172TrpfsTer6
ENST00000684755.1:n.511del
ENST00000685024.1:c.1130del
ENST00000685166.1:c.15985del	ENSP00000509386.1:p.Met5330TrpfsTer6
ENST00000688411.1:c.453del	ENSP00000510146.1:n.453del
ENST00000691932.1:c.55del	ENSP00000509037.1:p.Met20TrpfsTer6
ENST00000692637.1:c.15973del	ENSP00000509666.1:p.Met5326TrpfsTer6
ENST00000301067.12:c.15976del MANE Select	ENSP00000301067.7:p.Met5327TrpfsTer6
ENST00000301067.11:c.15976del	ENSP00000301067.7:p.Met5327TrpfsTer6
NM_003482.3:c.15976del	NP_003473.3:p.Met5327TrpfsTer6
XM_005269162.3:c.15976del	XP_005269219.1:p.Met5327TrpfsTer6
XM_006719614.2:c.15985del	XP_006719677.1:p.Met5330TrpfsTer6
XM_006719616.2:c.15973del	XP_006719679.1:p.Met5326TrpfsTer6
XM_011538770.1:c.15985del	XP_011537072.1:p.Met5330TrpfsTer6
XM_011538771.1:c.15982del	XP_011537073.1:p.Met5329TrpfsTer6
XM_011538772.1:c.15976del	XP_011537074.1:p.Met5327TrpfsTer6
XM_011538773.1:c.15973del	XP_011537075.1:p.Met5326TrpfsTer6
XM_011538774.1:c.15964del	XP_011537076.1:p.Met5323TrpfsTer6
XM_011538775.1:c.15919del	XP_011537077.1:p.Met5308TrpfsTer6
XM_011538776.1:c.15892del	XP_011537078.1:p.Met5299TrpfsTer6
XM_005269162.4:c.15976del	XP_005269219.1:p.Met5327TrpfsTer6
XM_006719614.4:c.15985del	XP_006719677.1:p.Met5330TrpfsTer6
XM_006719616.3:c.15973del	XP_006719679.1:p.Met5326TrpfsTer6
XM_011538770.2:c.15985del	XP_011537072.1:p.Met5330TrpfsTer6
XM_011538771.2:c.15982del	XP_011537073.1:p.Met5329TrpfsTer6
XM_011538772.2:c.15976del	XP_011537074.1:p.Met5327TrpfsTer6
XM_011538773.2:c.15973del	XP_011537075.1:p.Met5326TrpfsTer6
XM_011538774.2:c.15964del	XP_011537076.1:p.Met5323TrpfsTer6
XM_011538776.2:c.15892del	XP_011537078.1:p.Met5299TrpfsTer6
XR_001748874.1:n.16153del
NM_003482.4:c.15976del MANE Select	NP_003473.3:p.Met5327TrpfsTer6