Canonical Allele Identifier: CA2695199078

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2631712
• ClinVar RCV Id: RCV004531570

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024686del , CM000674.2:g.49024686del	GRCh38
NC_000012.11:g.49418469del , CM000674.1:g.49418469del	GRCh37
NC_000012.10:g.47704736del	NCBI36
NG_027827.1:g.35642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.619del
ENST00000683543.2:c.15947del	ENSP00000506726.1:p.Asn5316ThrfsTer17
ENST00000683863.1:n.1662del
ENST00000684428.1:c.482del	ENSP00000507433.1:p.Asn161ThrfsTer17
ENST00000684755.1:n.482del
ENST00000685024.1:c.1101del
ENST00000685166.1:c.15956del	ENSP00000509386.1:p.Asn5319ThrfsTer17
ENST00000688411.1:c.424del	ENSP00000510146.1:n.424del
ENST00000691932.1:c.26del	ENSP00000509037.1:p.Asn9ThrfsTer17
ENST00000692637.1:c.15944del	ENSP00000509666.1:p.Asn5315ThrfsTer17
ENST00000301067.12:c.15947del MANE Select	ENSP00000301067.7:p.Asn5316ThrfsTer17
ENST00000301067.11:c.15947del	ENSP00000301067.7:p.Asn5316ThrfsTer17
NM_003482.3:c.15947del	NP_003473.3:p.Asn5316ThrfsTer17
XM_005269162.3:c.15947del	XP_005269219.1:p.Asn5316ThrfsTer17
XM_006719614.2:c.15956del	XP_006719677.1:p.Asn5319ThrfsTer17
XM_006719616.2:c.15944del	XP_006719679.1:p.Asn5315ThrfsTer17
XM_011538770.1:c.15956del	XP_011537072.1:p.Asn5319ThrfsTer17
XM_011538771.1:c.15953del	XP_011537073.1:p.Asn5318ThrfsTer17
XM_011538772.1:c.15947del	XP_011537074.1:p.Asn5316ThrfsTer17
XM_011538773.1:c.15944del	XP_011537075.1:p.Asn5315ThrfsTer17
XM_011538774.1:c.15935del	XP_011537076.1:p.Asn5312ThrfsTer17
XM_011538775.1:c.15890del	XP_011537077.1:p.Asn5297ThrfsTer17
XM_011538776.1:c.15863del	XP_011537078.1:p.Asn5288ThrfsTer17
XM_005269162.4:c.15947del	XP_005269219.1:p.Asn5316ThrfsTer17
XM_006719614.4:c.15956del	XP_006719677.1:p.Asn5319ThrfsTer17
XM_006719616.3:c.15944del	XP_006719679.1:p.Asn5315ThrfsTer17
XM_011538770.2:c.15956del	XP_011537072.1:p.Asn5319ThrfsTer17
XM_011538771.2:c.15953del	XP_011537073.1:p.Asn5318ThrfsTer17
XM_011538772.2:c.15947del	XP_011537074.1:p.Asn5316ThrfsTer17
XM_011538773.2:c.15944del	XP_011537075.1:p.Asn5315ThrfsTer17
XM_011538774.2:c.15935del	XP_011537076.1:p.Asn5312ThrfsTer17
XM_011538776.2:c.15863del	XP_011537078.1:p.Asn5288ThrfsTer17
XR_001748874.1:n.16124del
NM_003482.4:c.15947del MANE Select	NP_003473.3:p.Asn5316ThrfsTer17