Canonical Allele Identifier: CA16609843
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 403721
ClinVar RCV Id: RCV000468099
dbSNP Id: rs1060499724

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042579del , CM000674.2:g.49042579del GRCh38
NC_000012.11:g.49436362del , CM000674.1:g.49436362del GRCh37
NC_000012.10:g.47722629del NCBI36
NG_027827.1:g.17749del

Transcript Alleles

HGVS Amino-acid change
ENST00000650290.2:c.664del
ENST00000683543.2:c.5852del ENSP00000506726.1:p.Pro1951ArgfsTer?
ENST00000685166.1:c.5861del ENSP00000509386.1:p.Pro1954ArgfsTer?
ENST00000688095.1:c.1801del ENSP00000510007.1:n.1801del
ENST00000692637.1:c.5849del ENSP00000509666.1:p.Pro1950ArgfsTer?
ENST00000301067.12:c.5852del MANE Select ENSP00000301067.7:p.Pro1951ArgfsTer?
ENST00000301067.11:c.5852del ENSP00000301067.7:p.Pro1951ArgfsTer?
NM_003482.3:c.5852del NP_003473.3:p.Pro1951ArgfsTer?
XM_005269162.3:c.5852del XP_005269219.1:p.Pro1951ArgfsTer?
XM_006719614.2:c.5861del XP_006719677.1:p.Pro1954ArgfsTer?
XM_006719616.2:c.5849del XP_006719679.1:p.Pro1950ArgfsTer?
XM_011538770.1:c.5861del XP_011537072.1:p.Pro1954ArgfsTer?
XM_011538771.1:c.5858del XP_011537073.1:p.Pro1953ArgfsTer?
XM_011538772.1:c.5852del XP_011537074.1:p.Pro1951ArgfsTer?
XM_011538773.1:c.5849del XP_011537075.1:p.Pro1950ArgfsTer?
XM_011538774.1:c.5861del XP_011537076.1:p.Pro1954ArgfsTer?
XM_011538775.1:c.5861del XP_011537077.1:p.Pro1954ArgfsTer?
XM_011538776.1:c.5861del XP_011537078.1:p.Pro1954ArgfsTer?
XR_944740.1:n.8181del
XM_005269162.4:c.5852del XP_005269219.1:p.Pro1951ArgfsTer?
XM_006719614.4:c.5861del XP_006719677.1:p.Pro1954ArgfsTer?
XM_006719616.3:c.5849del XP_006719679.1:p.Pro1950ArgfsTer?
XM_011538770.2:c.5861del XP_011537072.1:p.Pro1954ArgfsTer?
XM_011538771.2:c.5858del XP_011537073.1:p.Pro1953ArgfsTer?
XM_011538772.2:c.5852del XP_011537074.1:p.Pro1951ArgfsTer?
XM_011538773.2:c.5849del XP_011537075.1:p.Pro1950ArgfsTer?
XM_011538774.2:c.5861del XP_011537076.1:p.Pro1954ArgfsTer?
XM_011538776.2:c.5861del XP_011537078.1:p.Pro1954ArgfsTer?
XR_001748874.1:n.7170del
NM_003482.4:c.5852del MANE Select NP_003473.3:p.Pro1951ArgfsTer?