Canonical Allele Identifier: CA2575144404

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1392692
• ClinVar RCV Id: RCV001896353
• dbSNP Id: rs2120411716

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030940_49030942del , CM000674.2:g.49030940_49030942del	GRCh38
NC_000012.11:g.49424723_49424725del , CM000674.1:g.49424723_49424725del	GRCh37
NC_000012.10:g.47710990_47710992del	NCBI36
NG_027827.1:g.29387_29389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.326_328del
ENST00000683543.2:c.13626_13628del	ENSP00000506726.1:p.Glu4542del
ENST00000685166.1:c.13635_13637del	ENSP00000509386.1:p.Glu4545del
ENST00000685982.1:c.139-170_139-168del	ENSP00000508613.1:n.139-170_139-168del
ENST00000691986.1:c.138+237_138+239del	ENSP00000509196.1:n.138+237_138+239del
ENST00000692637.1:c.13623_13625del	ENSP00000509666.1:p.Glu4541del
ENST00000692973.1:c.227_229del	ENSP00000508893.1:n.227_229del
ENST00000301067.12:c.13626_13628del MANE Select	ENSP00000301067.7:p.Glu4542del
ENST00000301067.11:c.13626_13628del	ENSP00000301067.7:p.Glu4542del
ENST00000552391.1:n.326_328del
NM_003482.3:c.13626_13628del	NP_003473.3:p.Glu4542del
XM_005269162.3:c.13626_13628del	XP_005269219.1:p.Glu4542del
XM_006719614.2:c.13635_13637del	XP_006719677.1:p.Glu4545del
XM_006719616.2:c.13623_13625del	XP_006719679.1:p.Glu4541del
XM_011538770.1:c.13635_13637del	XP_011537072.1:p.Glu4545del
XM_011538771.1:c.13632_13634del	XP_011537073.1:p.Glu4544del
XM_011538772.1:c.13626_13628del	XP_011537074.1:p.Glu4542del
XM_011538773.1:c.13623_13625del	XP_011537075.1:p.Glu4541del
XM_011538774.1:c.13614_13616del	XP_011537076.1:p.Glu4538del
XM_011538775.1:c.13635_13637del	XP_011537077.1:p.Glu4545del
XM_011538776.1:c.13542_13544del	XP_011537078.1:p.Glu4514del
XR_944740.1:n.15955_15957del
XM_005269162.4:c.13626_13628del	XP_005269219.1:p.Glu4542del
XM_006719614.4:c.13635_13637del	XP_006719677.1:p.Glu4545del
XM_006719616.3:c.13623_13625del	XP_006719679.1:p.Glu4541del
XM_011538770.2:c.13635_13637del	XP_011537072.1:p.Glu4545del
XM_011538771.2:c.13632_13634del	XP_011537073.1:p.Glu4544del
XM_011538772.2:c.13626_13628del	XP_011537074.1:p.Glu4542del
XM_011538773.2:c.13623_13625del	XP_011537075.1:p.Glu4541del
XM_011538774.2:c.13614_13616del	XP_011537076.1:p.Glu4538del
XM_011538776.2:c.13542_13544del	XP_011537078.1:p.Glu4514del
XR_001748874.1:n.14944_14946del
NM_003482.4:c.13626_13628del MANE Select	NP_003473.3:p.Glu4542del